{"id":"https://openalex.org/W2009597624","doi":"https://doi.org/10.1002/humu.1380050409","title":"Analysis of \u03b2-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation","display_name":"Analysis of \u03b2-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSINT 5 (G-C) mutation","publication_year":1995,"publication_date":"1995-01-01","ids":{"openalex":"https://openalex.org/W2009597624","doi":"https://doi.org/10.1002/humu.1380050409","mag":"2009597624","pmid":"https://pubmed.ncbi.nlm.nih.gov/7627187"},"language":"en","primary_location":{"id":"doi:10.1002/humu.1380050409","doi":"https://doi.org/10.1002/humu.1380050409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.1380050409","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","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":null,"display_name":"R. De Leo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R. De Leo","raw_affiliation_strings":["Institute of Cell Biology, C.N.R., Rome, Italy","Fax: 39-6-8273287","Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Cell Biology, C.N.R., Rome, Italy","institution_ids":[]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]},{"raw_affiliation_string":"Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033939341","display_name":"Giancarlo Deidda","orcid":"https://orcid.org/0000-0002-0828-5800","observed_orcids":["https://orcid.org/0000-0002-0828-5800"]},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"G. Deidda","raw_affiliation_strings":["Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy","Fax: 39-6-8273287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy","institution_ids":["https://openalex.org/I4210155236"]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015873320","display_name":"Andrea Novelletto","orcid":"https://orcid.org/0000-0002-1146-7680","observed_orcids":["https://orcid.org/0000-0002-1146-7680"]},"institutions":[{"id":"https://openalex.org/I116067653","display_name":"University of Rome Tor Vergata","ror":"https://ror.org/02p77k626","country_code":"IT","type":"education","lineage":["https://openalex.org/I116067653"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Novelletto","raw_affiliation_strings":["Department of Biology, University of Rome \u201cTor Vergata,\u201d Italy","Fax: 39-6-8273287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, University of Rome \u201cTor Vergata,\u201d Italy","institution_ids":["https://openalex.org/I116067653"]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046564240","display_name":"S. El-Kalla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800196814","display_name":"Latifa Hospital","ror":"https://ror.org/05n56ba96","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I1287366011","https://openalex.org/I2800196814"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"S. El-Kalla","raw_affiliation_strings":["Al Wasl Pediatric Hospital, Dubai, U.A.E","Fax: 39-6-8273287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Wasl Pediatric Hospital, Dubai, U.A.E","institution_ids":["https://openalex.org/I2800196814"]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111524640","display_name":"A. R. Mathews","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800196814","display_name":"Latifa Hospital","ror":"https://ror.org/05n56ba96","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I1287366011","https://openalex.org/I2800196814"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"A. R. Mathews","raw_affiliation_strings":["Al Wasl Pediatric Hospital, Dubai, U.A.E","Fax: 39-6-8273287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Al Wasl Pediatric Hospital, Dubai, U.A.E","institution_ids":["https://openalex.org/I2800196814"]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075163412","display_name":"Luciano Felicetti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155236","display_name":"National Research Council","ror":"https://ror.org/04zaypm56","country_code":"IT","type":"nonprofit","lineage":["https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"L. Felicetti","raw_affiliation_strings":["Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy","Fax: 39-6-8273287"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Cell Biology, C.N.R., V. le Carlo Marx 43, 00137 Rome, Italy","institution_ids":["https://openalex.org/I4210155236"]},{"raw_affiliation_string":"Fax: 39-6-8273287","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5075163412"],"corresponding_institution_ids":["https://openalex.org/I4210155236"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.9447,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.73858008,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"5","issue":"4","first_page":"327","last_page":"328"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0,"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/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.968999981880188},{"id":"https://openalex.org/keywords/beta-globin-gene-mutations","display_name":"beta-globin gene mutations","score":0.8790000081062317},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6110000014305115},{"id":"https://openalex.org/keywords/mutation-origin","display_name":"mutation origin","score":0.8790000081062317},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.699999988079071},{"id":"https://openalex.org/keywords/united-arab-emirates","display_name":"United Arab Emirates","score":0.9629999995231628}],"concepts":[{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.7684808969497681},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7284048795700073},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7233260869979858},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.714185357093811},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.699910044670105},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2807140052318573},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17660239338874817}],"mesh":[{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012008","descriptor_name":"Recurrence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014479","descriptor_name":"United Arab Emirates","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017086","descriptor_name":"beta-Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.1380050409","doi":"https://doi.org/10.1002/humu.1380050409","is_oa":false,"landing_page_url":"https://doi.org/10.1002/humu.1380050409","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:7627187","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7627187","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W1571450628","https://openalex.org/W1966062963","https://openalex.org/W1981921023","https://openalex.org/W2012866233","https://openalex.org/W2068430744","https://openalex.org/W2070849858","https://openalex.org/W2081157122","https://openalex.org/W2092630934","https://openalex.org/W2127391013","https://openalex.org/W2281822636","https://openalex.org/W2294847341","https://openalex.org/W2342709894"],"related_works":["https://openalex.org/W2127391013","https://openalex.org/W2134414570","https://openalex.org/W2003388803","https://openalex.org/W2068929641","https://openalex.org/W2040568964","https://openalex.org/W2055589357","https://openalex.org/W2401663790","https://openalex.org/W2041337556","https://openalex.org/W4253216264","https://openalex.org/W2085909505"],"abstract_inverted_index":{"Beta-thalassemia":[0],"mutations":[1],"were":[2],"characterized":[3],"in":[4,16,25,52],"a":[5,42],"sample":[6],"of":[7,19,22,49],"70":[8],"patients":[9],"from":[10],"United":[11],"Arab":[12],"Emirates":[13],"(U.A.E.),":[14],"resulting":[15],"an":[17,46],"enlargement":[18],"the":[20,26,32],"spectrum":[21],"types":[23],"found":[24],"country.":[27],"The":[28],"complete":[29],"association":[30],"between":[31],"most":[33],"common":[34],"IVS":[35],"I":[36],"nt":[37],"5":[38],"(G-C)":[39],"mutation":[40,51],"and":[41],"specific":[43],"haplotype":[44],"reveals":[45],"independent":[47],"origin":[48],"this":[50],"U.A.E.":[53]},"counts_by_year":[{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}