{"id":"https://openalex.org/W2006039208","doi":"https://doi.org/10.1007/s10048-003-0166-8","title":"Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor","display_name":"Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor","publication_year":2004,"publication_date":"2004-02-01","ids":{"openalex":"https://openalex.org/W2006039208","doi":"https://doi.org/10.1007/s10048-003-0166-8","mag":"2006039208","pmid":"https://pubmed.ncbi.nlm.nih.gov/14648242"},"language":"en","primary_location":{"id":"doi:10.1007/s10048-003-0166-8","doi":"https://doi.org/10.1007/s10048-003-0166-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10048-003-0166-8","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"neurogenetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5067863181","display_name":"Mazal Karpati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Mazal Karpati","raw_affiliation_strings":["Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621 Tel Hashomer, Israel","Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621 Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077057218","display_name":"Ephraim Gazit","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Ephraim Gazit","raw_affiliation_strings":["Department of Pediatrics, Sheba Medical Center, 52621, Tel Hashomer, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Department of Pediatrics, Sheba Medical Center, Tel Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Sheba Medical Center, 52621, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Department of Pediatrics, Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101986636","display_name":"Roberto Colombo","orcid":"https://orcid.org/0000-0003-0482-7542","observed_orcids":["https://orcid.org/0000-0003-0482-7542"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberto Colombo","raw_affiliation_strings":["Laboratory of Human Molecular Biology and Genetics, Faculty of Psychology, Catholic University of the Sacred Heart, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Molecular Biology and Genetics, Faculty of Psychology, Catholic University of the Sacred Heart, Milan, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108399638","display_name":"Leah Peleg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Leah Peleg","raw_affiliation_strings":["Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621, Tel Hashomer, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111781246","display_name":"Boleslaw Goldman","orcid":"https://orcid.org/0009-0002-5258-8953","observed_orcids":["https://orcid.org/0009-0002-5258-8953"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Boleslaw Goldman","raw_affiliation_strings":["Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621, Tel Hashomer, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, 52621, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013209204","display_name":"Amos Frisch","orcid":"https://orcid.org/0009-0003-6769-6989","observed_orcids":["https://orcid.org/0009-0003-6769-6989"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Amos Frisch","raw_affiliation_strings":["Felsenstein Medical Research Center, Rabin Medical Center, 49100, Petah-Tikva, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva , Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Felsenstein Medical Research Center, Rabin Medical Center, 49100, Petah-Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva , Israel","institution_ids":["https://openalex.org/I2800389475"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5108399638"],"corresponding_institution_ids":["https://openalex.org/I16391192","https://openalex.org/I2799810450"],"apc_list":{"value":4590,"currency":"USD","value_usd":4590},"apc_paid":null,"fwci":0.7805,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.71459423,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"5","issue":"1","first_page":"35","last_page":"40"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/tay-sachs-disease","display_name":"Tay-Sachs disease","score":0.9959999918937683},{"id":"https://openalex.org/keywords/hexa-gene","display_name":"HEXA gene","score":0.9169999957084656},{"id":"https://openalex.org/keywords/iraqi-jews","display_name":"Iraqi Jews","score":0.7250000238418579},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.6990000009536743},{"id":"https://openalex.org/keywords/mutation-age-estimation","display_name":"mutation age estimation","score":0.5270000100135803},{"id":"https://openalex.org/keywords/genetic-ancestry","display_name":"genetic ancestry","score":0.34700000286102295},{"id":"https://openalex.org/keywords/ashkenazi-jews","display_name":"Ashkenazi Jews","score":0.7360000014305115},{"id":"https://openalex.org/keywords/moroccan-jews","display_name":"Moroccan Jews","score":0.640999972820282},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.656000018119812},{"id":"https://openalex.org/keywords/genetic-history","display_name":"genetic history","score":0.3160000145435333},{"id":"https://openalex.org/keywords/carrier-frequency","display_name":"carrier frequency","score":0.45500001311302185},{"id":"https://openalex.org/keywords/sphingolipidoses","display_name":"sphingolipidosis","score":0.550000011920929}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6141223907470703},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.6102938055992126},{"id":"https://openalex.org/C2778098279","wikidata":"https://www.wikidata.org/wiki/Q560337","display_name":"Tay-Sachs disease","level":3,"score":0.5944774150848389},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.5139102935791016},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4986405372619629},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4745895564556122},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4690084159374237},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.4255126714706421},{"id":"https://openalex.org/C2780422015","wikidata":"https://www.wikidata.org/wiki/Q402152","display_name":"Ancestor","level":2,"score":0.42010697722435},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.4195683002471924},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3995167016983032},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1942574679851532},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.18485847115516663},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.12929198145866394},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.09987139701843262},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.09156835079193115},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D001619","descriptor_name":"beta-N-Acetylhexosaminidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","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":"D007493","descriptor_name":"Iraq","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D007557","descriptor_name":"Israel","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D007585","descriptor_name":"Jews","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013661","descriptor_name":"Tay-Sachs Disease","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":true},{"descriptor_ui":"D013661","descriptor_name":"Tay-Sachs Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015994","descriptor_name":"Incidence","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":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054818","descriptor_name":"Hexosaminidase A","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10048-003-0166-8","doi":"https://doi.org/10.1007/s10048-003-0166-8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10048-003-0166-8","pdf_url":null,"source":{"id":"https://openalex.org/S185726200","display_name":"Neurogenetics","issn_l":"1364-6745","issn":["1364-6745","1364-6753"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"neurogenetics","raw_type":"journal-article"},{"id":"pmid:14648242","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14648242","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":"Neurogenetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W56001303","https://openalex.org/W1484955509","https://openalex.org/W1514485530","https://openalex.org/W1522536942","https://openalex.org/W1568473891","https://openalex.org/W1584452163","https://openalex.org/W1969511229","https://openalex.org/W1983064908","https://openalex.org/W1985449116","https://openalex.org/W2022177992","https://openalex.org/W2024036407","https://openalex.org/W2025306791","https://openalex.org/W2048616424","https://openalex.org/W2061155369","https://openalex.org/W2069494839","https://openalex.org/W2073917725","https://openalex.org/W2080523263","https://openalex.org/W2086508672","https://openalex.org/W2096197088","https://openalex.org/W2104743461","https://openalex.org/W2108490863","https://openalex.org/W2136799571","https://openalex.org/W2139404928","https://openalex.org/W2144297291","https://openalex.org/W2148873746","https://openalex.org/W2158140839","https://openalex.org/W2164657222","https://openalex.org/W2170343590","https://openalex.org/W2410925171","https://openalex.org/W2415723462","https://openalex.org/W2416554683"],"related_works":["https://openalex.org/W2136799571","https://openalex.org/W1584452163","https://openalex.org/W2055128270","https://openalex.org/W1999354068","https://openalex.org/W1982812523","https://openalex.org/W2032270510","https://openalex.org/W1494249676","https://openalex.org/W136270404","https://openalex.org/W1525426495","https://openalex.org/W2136080694"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"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"}
