{"id":"https://openalex.org/W3084032730","doi":"https://doi.org/10.1080/08820139.2020.1817068","title":"Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations)","display_name":"Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations)","publication_year":2020,"publication_date":"2020-09-08","ids":{"openalex":"https://openalex.org/W3084032730","doi":"https://doi.org/10.1080/08820139.2020.1817068","mag":"3084032730","pmid":"https://pubmed.ncbi.nlm.nih.gov/32896191"},"language":"en","primary_location":{"id":"doi:10.1080/08820139.2020.1817068","doi":"https://doi.org/10.1080/08820139.2020.1817068","is_oa":false,"landing_page_url":"https://doi.org/10.1080/08820139.2020.1817068","pdf_url":null,"source":{"id":"https://openalex.org/S44471553","display_name":"Immunological Investigations","issn_l":"0882-0139","issn":["0882-0139","1532-4311"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Immunological Investigations","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018425823","display_name":"Susan Nabilou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210154083","display_name":"Semnan University of Medical Sciences","ror":"https://ror.org/05y44as61","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210154083"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Susan Nabilou","raw_affiliation_strings":["Department of Immunology, Semnan University of Medical Sciences and Health Services, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, Semnan University of Medical Sciences and Health Services, Semnan, Iran","institution_ids":["https://openalex.org/I4210154083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014269342","display_name":"Fatemeh Pak","orcid":"https://orcid.org/0000-0002-0074-8428","observed_orcids":["https://orcid.org/0000-0002-0074-8428"]},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I4210154083","display_name":"Semnan University of Medical Sciences","ror":"https://ror.org/05y44as61","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210154083"]}],"countries":["IR","SE"],"is_corresponding":false,"raw_author_name":"Fatemeh Pak","raw_affiliation_strings":["Cancer Center Karolinska, Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden","Cancer Research Center, Semnan University of Medical Sciences and Health Services, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Center Karolinska, Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Cancer Research Center, Semnan University of Medical Sciences and Health Services, Semnan, Iran","institution_ids":["https://openalex.org/I4210154083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009291973","display_name":"Zahra Alizadeh","orcid":"https://orcid.org/0000-0003-3818-694X","observed_orcids":["https://orcid.org/0000-0003-3818-694X"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Zahra Alizadeh","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028759521","display_name":"Mohammad Reza Fazlollahi","orcid":"https://orcid.org/0000-0002-1454-3933","observed_orcids":["https://orcid.org/0000-0002-1454-3933"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mohammad Reza Fazlollahi","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060815927","display_name":"Massoud Houshmand","orcid":"https://orcid.org/0000-0002-2198-223X","observed_orcids":["https://orcid.org/0000-0002-2198-223X","https://orcid.org/0009-0009-4319-0186"]},"institutions":[{"id":"https://openalex.org/I4210137727","display_name":"National Institute of Genetic Engineering and Biotechnology","ror":"https://ror.org/03ckh6215","country_code":"IR","type":"facility","lineage":["https://openalex.org/I4210137727"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Masoud Houshmand","raw_affiliation_strings":["Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran","institution_ids":["https://openalex.org/I4210137727"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005463759","display_name":"Maryam Ayazi","orcid":"https://orcid.org/0000-0002-2922-8645","observed_orcids":["https://orcid.org/0000-0002-2922-8645"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Maryam Ayazi","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001319043","display_name":"Iraj Mohammadzadeh","orcid":"https://orcid.org/0000-0002-4257-1907","observed_orcids":["https://orcid.org/0000-0002-4257-1907"]},"institutions":[{"id":"https://openalex.org/I70876197","display_name":"Babol University of Medical Sciences","ror":"https://ror.org/02r5cmz65","country_code":"IR","type":"education","lineage":["https://openalex.org/I70876197"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Iraj Mohammadzadeh","raw_affiliation_strings":["Non-communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Non-communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran","institution_ids":["https://openalex.org/I70876197"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109521330","display_name":"Mohammad Hasan Bemanian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I4210094544","display_name":"Rasool Akram Hospital","ror":"https://ror.org/00kh76710","country_code":"IR","type":"healthcare","lineage":["https://openalex.org/I4210094544"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mohammad Hasan Bemanian","raw_affiliation_strings":["Department of Allergy, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Allergy, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I4210094544"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001922179","display_name":"Abbas Fayezi","orcid":"https://orcid.org/0000-0002-3219-5880","observed_orcids":["https://orcid.org/0000-0002-3219-5880","https://orcid.org/0000-0002-4169-2715"]},"institutions":[{"id":"https://openalex.org/I119939603","display_name":"Ahvaz Jundishapur University of Medical Sciences","ror":"https://ror.org/01rws6r75","country_code":"IR","type":"education","lineage":["https://openalex.org/I119939603"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Abbas Fayezi","raw_affiliation_strings":["Division of Allergy and Immunology, School of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Allergy and Immunology, School of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran","institution_ids":["https://openalex.org/I119939603"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051539580","display_name":"Mohammad Nabavi","orcid":"https://orcid.org/0000-0001-6558-0390","observed_orcids":["https://orcid.org/0000-0001-6558-0390"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I4210094544","display_name":"Rasool Akram Hospital","ror":"https://ror.org/00kh76710","country_code":"IR","type":"healthcare","lineage":["https://openalex.org/I4210094544"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mohammad Nabavi","raw_affiliation_strings":["Department of Allergy, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Allergy, Rasool-e-Akram Hospital, Iran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I4210094544"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021189033","display_name":"Shiva Saghafi","orcid":"https://orcid.org/0000-0001-8546-3247","observed_orcids":["https://orcid.org/0000-0001-8546-3247"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Shiva Saghafi","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084151899","display_name":"Sajedeh Mohammadian","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Sajedeh Mohammadian","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050210583","display_name":"Parviz Kokhaei","orcid":"https://orcid.org/0000-0001-6544-4209","observed_orcids":["https://orcid.org/0000-0001-6544-4209"]},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]},{"id":"https://openalex.org/I4210154083","display_name":"Semnan University of Medical Sciences","ror":"https://ror.org/05y44as61","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210154083"]}],"countries":["IR","SE"],"is_corresponding":false,"raw_author_name":"Parviz Kokhaei","raw_affiliation_strings":["Cancer Center Karolinska, Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden","Cancer Research Center, Semnan University of Medical Sciences and Health Services, Semnan, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cancer Center Karolinska, Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]},{"raw_affiliation_string":"Cancer Research Center, Semnan University of Medical Sciences and Health Services, Semnan, Iran","institution_ids":["https://openalex.org/I4210154083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018440959","display_name":"Mostafa Moin","orcid":"https://orcid.org/0000-0002-6150-9009","observed_orcids":["https://orcid.org/0000-0002-6150-9009"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mostafa Moin","raw_affiliation_strings":["Department of Immunology and Allergy, Tehran University of Medical Sciences Children Hospital, Tehran, Iran","Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology and Allergy, Tehran University of Medical Sciences Children Hospital, Tehran, Iran","institution_ids":["https://openalex.org/I70640408"]},{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061790555","display_name":"Zahra Pourpak","orcid":"https://orcid.org/0000-0002-4422-719X","observed_orcids":["https://orcid.org/0000-0002-4422-719X"]},"institutions":[{"id":"https://openalex.org/I161106909","display_name":"Iran University of Medical Sciences","ror":"https://ror.org/03w04rv71","country_code":"IR","type":"education","lineage":["https://openalex.org/I161106909"]},{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Zahra Pourpak","raw_affiliation_strings":["Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5061790555"],"corresponding_institution_ids":["https://openalex.org/I161106909","https://openalex.org/I70640408"],"apc_list":null,"apc_paid":null,"fwci":0.4911,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.61647236,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"51","issue":"1","first_page":"170","last_page":"181"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10993","display_name":"Complement system in diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/type-i-hereditary-angioedema","display_name":"type I hereditary angioedema","score":0.9409999847412109},{"id":"https://openalex.org/keywords/serping1-mutations","display_name":"SERPING1 mutations","score":0.8209999799728394},{"id":"https://openalex.org/keywords/c1-inhibitor-deficiency","display_name":"C1 inhibitor deficiency","score":0.843999981880188},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9570000171661377},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8930000066757202},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.984000027179718},{"id":"https://openalex.org/keywords/aberrant-splicing","display_name":"aberrant splicing","score":0.9079999923706055},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.6970000267028809},{"id":"https://openalex.org/keywords/iranian-patients","display_name":"Iranian patients","score":0.8100000023841858},{"id":"https://openalex.org/keywords/genetic-spectrum","display_name":"genetic spectrum","score":0.5870000123977661}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.8832118511199951},{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.7747596502304077},{"id":"https://openalex.org/C2777788586","wikidata":"https://www.wikidata.org/wiki/Q2096745","display_name":"Hereditary angioedema","level":2,"score":0.6771177649497986},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6669373512268066},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6119605302810669},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.5636094808578491},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44904154539108276},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.4442730247974396},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.43178656697273254},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.3658648133277893},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29062432050704956},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2884322702884674},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.22451737523078918},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.22301805019378662}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007492","descriptor_name":"Iran","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050718","descriptor_name":"Complement C1 Inhibitor Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056829","descriptor_name":"Hereditary Angioedema Types I and II","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D056829","descriptor_name":"Hereditary Angioedema Types I and II","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1080/08820139.2020.1817068","doi":"https://doi.org/10.1080/08820139.2020.1817068","is_oa":false,"landing_page_url":"https://doi.org/10.1080/08820139.2020.1817068","pdf_url":null,"source":{"id":"https://openalex.org/S44471553","display_name":"Immunological Investigations","issn_l":"0882-0139","issn":["0882-0139","1532-4311"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Immunological Investigations","raw_type":"journal-article"},{"id":"pmid:32896191","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32896191","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Immunological investigations","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322670","display_name":"Tehran University of Medical Sciences and Health Services","ror":"https://ror.org/01c4pz451"},{"id":"https://openalex.org/F4320329995","display_name":"Semnan University of Medical Sciences and Health Services","ror":"https://ror.org/05y44as61"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1509000658","https://openalex.org/W1607403744","https://openalex.org/W1816546353","https://openalex.org/W1940680257","https://openalex.org/W1970263451","https://openalex.org/W1972013002","https://openalex.org/W1981415884","https://openalex.org/W1993415702","https://openalex.org/W1994268293","https://openalex.org/W1999646604","https://openalex.org/W2002929776","https://openalex.org/W2006254819","https://openalex.org/W2007070997","https://openalex.org/W2033840894","https://openalex.org/W2045523667","https://openalex.org/W2063768431","https://openalex.org/W2093523386","https://openalex.org/W2099661947","https://openalex.org/W2112402269","https://openalex.org/W2119668813","https://openalex.org/W2129759179","https://openalex.org/W2151769390","https://openalex.org/W2163995310","https://openalex.org/W2262089728","https://openalex.org/W2286745368","https://openalex.org/W2429637832","https://openalex.org/W2794946542","https://openalex.org/W2973032263"],"related_works":["https://openalex.org/W2802428165","https://openalex.org/W2063131963","https://openalex.org/W2974479314","https://openalex.org/W218042982","https://openalex.org/W2233073363","https://openalex.org/W2154182314","https://openalex.org/W7099022836","https://openalex.org/W1816546353","https://openalex.org/W4388527902","https://openalex.org/W4220765290"],"abstract_inverted_index":{"Background":[0],"Hereditary":[1],"Angioedema":[2],"(HAE)":[3],"is":[4],"a":[5,206],"rare":[6],"autosomal":[7],"dominant":[8],"immunodeficiency":[9],"disease":[10],"with":[11,55,110,116,175],"mutation":[12,162,176],"in":[13,26,62,76,100,165,209],"C1":[14],"inhibitor":[15],"gene":[16],"(SERPING1)":[17],"which":[18,152],"deficient":[19],"and":[20,47,65,69,82,114,144,171,183,188,194,221],"dysfunction":[21],"of":[22,43,58,154,178,185,197,217,230],"C1-INH":[23,231],"protein":[24],"result":[25],"HAE":[27,44,111,117,179],"type":[28,31,45,48,112,118],"I":[29,46,113],"or":[30,98],"II,":[32],"respectively.":[33],"The":[34],"present":[35],"study":[36],"aimed":[37],"to":[38,94],"define":[39],"the":[40,73,198,226],"genetic":[41,202],"spectrum":[42],"II":[49],"among":[50],"Iranian":[51],"patients.Methods":[52],"Thirty-four":[53],"patients":[54,107,167,223],"clinical":[56,181],"phenotype":[57],"recurrent":[59],"edematous":[60],"attacks":[61],"face,":[63],"upper":[64,70],"lower":[66],"limbs,":[67],"hands,":[68],"airway":[71],"entered":[72],"study.":[74],"Mutations":[75],"SERPING1":[77],"were":[78,108,157],"analyzed":[79],"using":[80],"PCR":[81],"Sanger":[83,169],"Sequencing.":[84],"In":[85,200],"addition,":[86,201],"Multiplex":[87],"Ligation-dependent":[88],"Probe":[89],"Amplification":[90],"(MLPA)":[91],"was":[92,163],"performed":[93],"discover":[95],"large":[96],"deletions":[97],"duplications":[99],"negative":[101],"screening":[102],"samples":[103],"by":[104,168],"Sanger.Results":[105],"Twenty-three":[106],"diagnosed":[109],"11":[115],"II.":[119],"Fourteen":[120],"distinctive":[121],"pathogenic":[122],"variations":[123],"including":[124],"five":[125],"frameshift":[126],"(p.G217Vfs*,":[127],"p.V454Gfs*18,":[128],"p.S422Lfs*9,":[129],"p.S36Ffs*21,":[130],"p.L243Cfs*9),":[131],"seven":[132,166],"missense":[133],"(p.A2V,":[134],"p.G493R,":[135],"p.V147E,":[136],"p.G143R,":[137],"p.L481P,":[138],"p.P399H,":[139],"p.R466C),":[140],"one":[141,145],"nonsense":[142],"(p.R494*),":[143],"splicing":[146],"defect":[147],"(C.51":[148],"+":[149],"2":[150],"T\u02c3C),":[151],"three":[153],"these":[155],"mutations":[156],"identified":[158],"novel.":[159],"However,":[160],"no":[161],"found":[164],"sequencing":[170],"MLPA.Conclusion":[172],"Final":[173],"diagnosis":[174,203,216],"analysis":[177],"after":[180],"evaluation":[182],"assessment":[184],"C1INH":[186],"level":[187],"function":[189],"can":[190,204],"prevent":[191],"potential":[192],"risks":[193],"life-threatening":[195],"manifestations":[196],"disorder.":[199],"play":[205],"significant":[207],"role":[208],"facilitating":[210],"early":[211,215],"diagnosis,":[212,214],"pre-symptomatic":[213],"children,":[218],"asymptomatic":[219],"cases,":[220],"those":[222],"who":[224],"have":[225],"borderline":[227],"biochemical":[228],"results":[229],"deficiency":[232],"and/or":[233],"C4.":[234]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2020-09-14T00:00:00"}