{"id":"https://openalex.org/W240657465","doi":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","title":"Molecular Mechanisms of Type II Factor XIII Deficiency: Novel Gly562-Arg Mutation and C-Terminal Truncation of the A Subunit Cause Factor XIII Deficiency as Characterized in a Mammalian Expression System","display_name":"Molecular Mechanisms of Type II Factor XIII Deficiency: Novel Gly562-Arg Mutation and C-Terminal Truncation of the A Subunit Cause Factor XIII Deficiency as Characterized in a Mammalian Expression System","publication_year":1998,"publication_date":"1998-04-15","ids":{"openalex":"https://openalex.org/W240657465","doi":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","mag":"240657465","pmid":"https://pubmed.ncbi.nlm.nih.gov/9531593"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v91.8.2830.2830_2830_2838","doi":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","pdf_url":"https://ashpublications.org/blood/article-pdf/91/8/2830/1644715/2830.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://ashpublications.org/blood/article-pdf/91/8/2830/1644715/2830.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080547513","display_name":"Nobumasa Takahashi","orcid":"https://orcid.org/0000-0003-0758-6035","observed_orcids":["https://orcid.org/0000-0003-0758-6035"]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Nobumasa Takahashi","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hiroaki Tsukamoto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Hiroaki Tsukamoto","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053496020","display_name":"Hideaki Umeyama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Hideaki Umeyama","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006881585","display_name":"Giancarlo Castaman","orcid":"https://orcid.org/0000-0003-4973-1317","observed_orcids":["https://orcid.org/0000-0003-4973-1317"]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Giancarlo Castaman","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013529815","display_name":"Francesco Rodeghiero","orcid":"https://orcid.org/0000-0003-2253-2502","observed_orcids":["https://orcid.org/0000-0003-2253-2502"]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Francesco Rodeghiero","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064588827","display_name":"Akitada Ichinose","orcid":"https://orcid.org/0000-0002-3807-5628","observed_orcids":["https://orcid.org/0000-0002-3807-5628"]},"institutions":[{"id":"https://openalex.org/I112524849","display_name":"Yamagata University","ror":"https://ror.org/00xy44n04","country_code":"JP","type":"education","lineage":["https://openalex.org/I112524849"]},{"id":"https://openalex.org/I4210152245","display_name":"Ospedale San Bortolo","ror":"https://ror.org/05wd86d64","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210152245"]},{"id":"https://openalex.org/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["IT","JP"],"is_corresponding":false,"raw_author_name":"Akitada Ichinose","raw_affiliation_strings":["From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Molecular Patho-Biochemistry, Yamagata University School of Medicine, Yamagata, Japan; the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan; the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I112524849","https://openalex.org/I4210152245","https://openalex.org/I64189623"]},{"raw_affiliation_string":"the Department of Haematology, San Bortolo Hospital, Vicenza, Italy","institution_ids":["https://openalex.org/I4210152245"]},{"raw_affiliation_string":"the Department of Physical Chemistry, Kitasato University School of Pharmaceutical Sciences, Tokyo, Japan","institution_ids":["https://openalex.org/I64189623"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":2.1253,"has_fulltext":true,"cited_by_count":36,"citation_normalized_percentile":{"value":0.8586134,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"91","issue":"8","first_page":"2830","last_page":"2838"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11721","display_name":"Blood properties and coagulation","score":0.8417999744415283,"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/T11721","display_name":"Blood properties and coagulation","score":0.8417999744415283,"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/T11280","display_name":"Hemophilia Treatment and Research","score":0.08829999715089798,"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/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.026900000870227814,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/factor-xiii-deficiency","display_name":"factor XIII deficiency","score":0.8159999847412109},{"id":"https://openalex.org/keywords/factor-xiii-subunit-a","display_name":"factor XIII A subunit","score":0.9769999980926514},{"id":"https://openalex.org/keywords/exon-11-deletion","display_name":"exon 11 deletion","score":0.7699999809265137},{"id":"https://openalex.org/keywords/c-terminal-truncation","display_name":"C-terminal truncation","score":0.847000002861023},{"id":"https://openalex.org/keywords/protein-misfolding","display_name":"protein misfolding","score":0.8420000076293945},{"id":"https://openalex.org/keywords/protein-degradation","display_name":"protein degradation","score":0.7789999842643738},{"id":"https://openalex.org/keywords/structure-function-relationship","display_name":"structure-function relationship","score":0.6439999938011169},{"id":"https://openalex.org/keywords/recombinant-protein-expression","display_name":"recombinant protein expression","score":0.6320000290870667},{"id":"https://openalex.org/keywords/mammalian-expression-systems","display_name":"mammalian cell expression systems","score":0.6930000185966492},{"id":"https://openalex.org/keywords/molecular-modeling","display_name":"molecular modeling","score":0.4320000112056732},{"id":"https://openalex.org/keywords/early-termination","display_name":"early termination","score":0.43799999356269836}],"concepts":[{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.6886962652206421},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6180960536003113},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.6121808290481567},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.58504718542099},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5595422387123108},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5154112577438354},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4885321855545044},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4675981402397156},{"id":"https://openalex.org/C207583985","wikidata":"https://www.wikidata.org/wiki/Q128723","display_name":"Wild type","level":4,"score":0.4472888708114624},{"id":"https://openalex.org/C20580545","wikidata":"https://www.wikidata.org/wiki/Q28354","display_name":"Stop codon","level":3,"score":0.4389272928237915},{"id":"https://openalex.org/C2779243652","wikidata":"https://www.wikidata.org/wiki/Q1393725","display_name":"Factor XIII deficiency","level":4,"score":0.43122488260269165},{"id":"https://openalex.org/C2779672106","wikidata":"https://www.wikidata.org/wiki/Q423712","display_name":"Factor XIII","level":3,"score":0.3219859004020691},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2862473726272583},{"id":"https://openalex.org/C2779036427","wikidata":"https://www.wikidata.org/wiki/Q381899","display_name":"Fibrinogen","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001120","descriptor_name":"Arginine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005176","descriptor_name":"Factor XIII","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005176","descriptor_name":"Factor XIII","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005177","descriptor_name":"Factor XIII Deficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005998","descriptor_name":"Glycine","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011995","descriptor_name":"Recombination, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013329","descriptor_name":"Structure-Activity Relationship","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1182/blood.v91.8.2830.2830_2830_2838","doi":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","pdf_url":"https://ashpublications.org/blood/article-pdf/91/8/2830/1644715/2830.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmid:9531593","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9531593","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":"Blood","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.956.4982","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.956.4982","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.bloodjournal.org/content/bloodjournal/91/8/2830.full.pdf?sso-checked%3Dtrue","raw_type":"text"},{"id":"mag:2279073820","doi":null,"is_oa":false,"landing_page_url":"http://ci.nii.ac.jp/naid/500000159777?l=ja","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.1182/blood.v91.8.2830.2830_2830_2838","doi":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","is_oa":true,"landing_page_url":"https://doi.org/10.1182/blood.v91.8.2830.2830_2830_2838","pdf_url":"https://ashpublications.org/blood/article-pdf/91/8/2830/1644715/2830.pdf","source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310756","display_name":"Japan Research Foundation for Clinical Pharmacology","ror":"https://ror.org/02900by63"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W240657465.pdf","grobid_xml":"https://content.openalex.org/works/W240657465.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1527634600","https://openalex.org/W1532891297","https://openalex.org/W1536334040","https://openalex.org/W1546266841","https://openalex.org/W1572595395","https://openalex.org/W1616833661","https://openalex.org/W1769743075","https://openalex.org/W1971550375","https://openalex.org/W1979046104","https://openalex.org/W1982458683","https://openalex.org/W1987708536","https://openalex.org/W1994884007","https://openalex.org/W1999046517","https://openalex.org/W2000641129","https://openalex.org/W2018634393","https://openalex.org/W2022443697","https://openalex.org/W2030035782","https://openalex.org/W2041395068","https://openalex.org/W2048867737","https://openalex.org/W2068958744","https://openalex.org/W2070333880","https://openalex.org/W2078564163","https://openalex.org/W2093841856","https://openalex.org/W2115619194","https://openalex.org/W2138270253","https://openalex.org/W2143557847","https://openalex.org/W2167803193","https://openalex.org/W2233311865","https://openalex.org/W2258647581","https://openalex.org/W2342134942","https://openalex.org/W2396601152","https://openalex.org/W2401950536","https://openalex.org/W2404517579","https://openalex.org/W2408964926","https://openalex.org/W2409098133","https://openalex.org/W2412786535","https://openalex.org/W2414570508","https://openalex.org/W2418588259","https://openalex.org/W2440128035"],"related_works":["https://openalex.org/W2279073820","https://openalex.org/W2011141621","https://openalex.org/W1974324275","https://openalex.org/W2092522541","https://openalex.org/W2418588259","https://openalex.org/W2085689299","https://openalex.org/W2396601152","https://openalex.org/W1616833661","https://openalex.org/W2258647581","https://openalex.org/W2050357374"],"abstract_inverted_index":{"To":[0,146],"explore":[1],"the":[2,8,35,103,115,133,136,144,154,161,172,181],"biological":[3],"and":[4,24,54],"clinical":[5],"implications":[6],"of":[7,34,47,83,105,117,135,143,153],"structure/function":[9],"relationships":[10],"in":[11,15,26,51,56,69,110,121,165,201,205],"factor":[12,202],"XIII,":[13],"mutations":[14,150,162],"two":[16],"patients":[17],"with":[18,191],"type":[19],"II":[20],"deficiency":[21,204],"were":[22,90,163,174],"identified":[23],"characterized":[25],"a":[27,45,75],"mammalian":[28,166],"expression":[29],"system.":[30],"Nucleotide":[31],"sequence":[32],"analysis":[33,100],"A":[36,137,155,158],"subunit":[37],"gene":[38],"showed":[39,170],"that":[40,87,102,130,171,187],"case":[41,57,70,111,122],"no.":[42,58,71,112,123],"1":[43,72],"had":[44,62],"deletion":[46,68],"4":[48],"bp":[49],"(AATT)":[50],"exon":[52],"XI":[53],"that,":[55],"2,":[59],"Gly562":[60],"(GGG)":[61],"been":[63],"replaced":[64],"by":[65],"Arg(AGG).":[66],"The":[67],"leads":[73],"to":[74,197],"premature":[76],"termination":[77],"at":[78],"codon":[79],"464.":[80],"Restriction":[81],"digestion":[82],"amplified":[84],"DNAs":[85],"confirmed":[86],"both":[88,188],"cases":[89],"homozygous":[91],"for":[92],"their":[93],"respective":[94],"mutations.":[95],"Reverse":[96],"transcription-polymerase":[97],"chain":[98],"reaction":[99],"demonstrated":[101],"level":[104,116],"mRNA":[106,119],"was":[107,125],"greatly":[108],"reduced":[109],"1,":[113],"whereas":[114,180],"mutant":[118,189],"expressed":[120,164],"2":[124],"normal.":[126],"Molecular":[127],"modeling":[128],"calculated":[129],"Arg562":[131],"changed":[132],"conformation":[134,194],"subunit,":[138,156],"suggesting":[139],"misfolding":[140],"and/or":[141],"destabilization":[142],"molecule.":[145],"determine":[147],"how":[148],"these":[149,206],"impaired":[151],"synthesis":[152],"recombinant":[157],"subunits":[159],"bearing":[160],"cells.":[167],"Pulse-chase":[168],"experiments":[169],"mutants":[173],"synthesized":[175],"normally":[176],"but":[177],"disappeared":[178],"rapidly,":[179],"wild-type":[182],"remained.":[183],"These":[184],"results":[185],"indicate":[186],"proteins":[190],"an":[192],"altered":[193],"become":[195],"prone":[196],"rapid":[198],"degradation,":[199],"resulting":[200],"XIII":[203],"patients.":[207]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}