{"id":"https://openalex.org/W2007280042","doi":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","title":"Detection of a novel splicing mutation causing analbuminemia in a Libyan family","display_name":"Detection of a novel splicing mutation causing analbuminemia in a Libyan family","publication_year":2012,"publication_date":"2012-05-18","ids":{"openalex":"https://openalex.org/W2007280042","doi":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","mag":"2007280042","pmid":"https://pubmed.ncbi.nlm.nih.gov/22613267"},"language":"en","primary_location":{"id":"doi:10.1016/j.clinbiochem.2012.05.007","doi":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","pdf_url":null,"source":{"id":"https://openalex.org/S17140621","display_name":"Clinical Biochemistry","issn_l":"0009-9120","issn":["0009-9120","1873-2933"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"Clinical Biochemistry","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/A5101777776","display_name":"Amina Bibi","orcid":"https://orcid.org/0000-0002-3509-1788","observed_orcids":["https://orcid.org/0000-0002-3509-1788"]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"Amina Bibi","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia. amina.bibi@rns.tn","Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia. amina.bibi@rns.tn","institution_ids":["https://openalex.org/I4210162629"]},{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070749164","display_name":"Latifa Jouini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Latifa Jouini","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087097117","display_name":"Chaima Abdelhafidh Sahli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Chaima Abdelhafidh Sahli","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113721126","display_name":"Sondess Hadj Fredj","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sondess Hadj Fredj","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082399076","display_name":"K. Abidi","orcid":"https://orcid.org/0000-0002-8788-0498","observed_orcids":["https://orcid.org/0000-0002-8788-0498"]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Kamel Abidi","raw_affiliation_strings":["Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052435795","display_name":"Lamia Gharsallah","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Lamia Gharsallah","raw_affiliation_strings":["Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049578781","display_name":"Sondess Mathlouthi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sondess Mathlouthi","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112335321","display_name":"Faida Ouali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Faida Ouali","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013937971","display_name":"Hajer Siala","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Hajer Siala","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020708443","display_name":"R. Belhaj","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Raja Belhaj","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054447093","display_name":"Azza Sammoud","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Azza Sammoud","raw_affiliation_strings":["Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics A, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113811386","display_name":"Taieb Ben Messaoud","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Taieb Messaoud","raw_affiliation_strings":["Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory, Children's Hospital, Bab Saadoun Square, 1007, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210162629"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5101777776"],"corresponding_institution_ids":["https://openalex.org/I4210162629"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.7337,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.68093285,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"45","issue":"15","first_page":"1183","last_page":"1186"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4738999903202057,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4738999903202057,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.20640000700950623,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11908","display_name":"Protein Interaction Studies and Fluorescence Analysis","score":0.06920000165700912,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/analbuminemia","display_name":"analbuminemia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.9039999842643738},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.7670000195503235}],"concepts":[{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.5700712203979492},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5581435561180115},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.399038165807724},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3922797739505768},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3400045931339264},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2721936106681824},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.172104150056839},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008002","descriptor_name":"Libya","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D012709","descriptor_name":"Serum Albumin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D034141","descriptor_name":"Hypoalbuminemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.clinbiochem.2012.05.007","doi":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.clinbiochem.2012.05.007","pdf_url":null,"source":{"id":"https://openalex.org/S17140621","display_name":"Clinical Biochemistry","issn_l":"0009-9120","issn":["0009-9120","1873-2933"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"Clinical Biochemistry","raw_type":"journal-article"},{"id":"pmid:22613267","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22613267","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":"Clinical biochemistry","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1494228633","https://openalex.org/W1978024403","https://openalex.org/W1979128260","https://openalex.org/W1998141619","https://openalex.org/W2015922187","https://openalex.org/W2035782938","https://openalex.org/W2062203886","https://openalex.org/W2093202982","https://openalex.org/W2171671507","https://openalex.org/W2465253148","https://openalex.org/W4211146992"],"related_works":["https://openalex.org/W1979128260","https://openalex.org/W1978024403","https://openalex.org/W2012370197","https://openalex.org/W2123352344","https://openalex.org/W2079060398","https://openalex.org/W2417738971","https://openalex.org/W2171671507","https://openalex.org/W2030983906","https://openalex.org/W2044130205","https://openalex.org/W2008637453"],"abstract_inverted_index":null,"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
