{"id":"https://openalex.org/W2121361038","doi":"https://doi.org/10.1016/s0002-9297(07)64251-7","title":"Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon","display_name":"Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon","publication_year":1997,"publication_date":"1997-06-01","ids":{"openalex":"https://openalex.org/W2121361038","doi":"https://doi.org/10.1016/s0002-9297(07)64251-7","mag":"2121361038","pmid":"https://pubmed.ncbi.nlm.nih.gov/9199580","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1716136"},"language":"en","primary_location":{"id":"doi:10.1016/s0002-9297(07)64251-7","doi":"https://doi.org/10.1016/s0002-9297(07)64251-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","pdf_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","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":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006492716","display_name":"Giovanni St\u00e9vanin","orcid":"https://orcid.org/0000-0001-9368-8657","observed_orcids":["https://orcid.org/0000-0001-9368-8657","https://orcid.org/0000-0003-2770-8407"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"GIOVANNI STEVANIN","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066385570","display_name":"Anne-Sophie L\u00e8bre","orcid":"https://orcid.org/0000-0002-7519-9822","observed_orcids":["https://orcid.org/0000-0002-7519-9822"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"ANNE-SOPHIE LEBRE","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015315303","display_name":"Cecile Mathieux","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00c9CILE MATHIEUX","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013493405","display_name":"G\u00e9raldine Cancel\u2010Tassin","orcid":"https://orcid.org/0000-0002-9583-6382","observed_orcids":["https://orcid.org/0000-0002-9583-6382"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"G\u00c9RALDINE CANCEL","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113573878","display_name":"N. Abbas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"NACER ABBAS","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004242022","display_name":"Olivier Didierjean","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"OLIVIER DIDIERJEAN","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"ALEXANDRA D\u00dcRR","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004447443","display_name":"Yvon Trottier","orcid":"https://orcid.org/0000-0001-7230-4810","observed_orcids":["https://orcid.org/0000-0001-7230-4810"]},"institutions":[{"id":"https://openalex.org/I4210086872","display_name":"Institut de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire et cellulaire","ror":"https://ror.org/0015ws592","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872","https://openalex.org/I4210096427","https://openalex.org/I68947357"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"YVON TROTTIER","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Illkirch, C.U. de Strasbourg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Illkirch, C.U. de Strasbourg","institution_ids":["https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111717236","display_name":"Yves Agid","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"YVES AGID","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"ALEXIS BRICE","raw_affiliation_strings":["INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289 and F\u00e9d\u00e9ration de Neurologie, H\u00f4 pital de la Salp\u00eatri\u00e8re, Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":1.4421,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.8103558,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"60","issue":"6","first_page":"1548","last_page":"1551"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-3","display_name":"spinocerebellar ataxia type 3","score":0.9940000176429749},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8240000009536743},{"id":"https://openalex.org/keywords/intragenic-polymorphisms","display_name":"intragenic polymorphisms","score":0.9599999785423279},{"id":"https://openalex.org/keywords/stop-codon","display_name":"stop codon","score":0.7990000247955322},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.7429999709129333}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8228440284729004},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.8074597120285034},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.7778550386428833},{"id":"https://openalex.org/C2777748165","wikidata":"https://www.wikidata.org/wiki/Q3026441","display_name":"Machado\u2013Joseph disease","level":4,"score":0.7636805176734924},{"id":"https://openalex.org/C2778146401","wikidata":"https://www.wikidata.org/wiki/Q10916362","display_name":"Disequilibrium","level":2,"score":0.4864315986633301},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4786195158958435},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44450849294662476},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.31428030133247375},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.30395591259002686},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2629004418849945},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19838550686836243},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","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":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","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":"D017827","descriptor_name":"Machado-Joseph Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018911","descriptor_name":"Trinucleotide Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044469","descriptor_name":"Racial Groups","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/s0002-9297(07)64251-7","doi":"https://doi.org/10.1016/s0002-9297(07)64251-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","pdf_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","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":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"doi:10.1086/523993","doi":"https://doi.org/10.1086/523993","is_oa":false,"landing_page_url":"https://doi.org/10.1086/523993","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","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":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:9199580","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9199580","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":"American journal of human genetics","raw_type":"Letter"},{"id":"pmh:oai:HAL:hal-03503733v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-03503733","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 1997, 60 (6), pp.1548-1552. ⟨10.1016/S0002-9297(07)64251-7⟩","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1016/s0002-9297(07)64251-7","doi":"https://doi.org/10.1016/s0002-9297(07)64251-7","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","pdf_url":"https://doi.org/10.1016/s0002-9297(07)64251-7","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","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":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.4043000042438507,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W2121361038.pdf"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W26813210","https://openalex.org/W239488127","https://openalex.org/W1250816784","https://openalex.org/W1505199084","https://openalex.org/W1980721237","https://openalex.org/W1981811801","https://openalex.org/W1986313511","https://openalex.org/W1988770591","https://openalex.org/W1990487314","https://openalex.org/W1992113775","https://openalex.org/W1999222814","https://openalex.org/W2042389195","https://openalex.org/W2058543711","https://openalex.org/W2073012734","https://openalex.org/W2084522377","https://openalex.org/W2086858480","https://openalex.org/W2118415943","https://openalex.org/W2124347540","https://openalex.org/W2137546687","https://openalex.org/W2169266783","https://openalex.org/W2337084848","https://openalex.org/W6609183667","https://openalex.org/W6627842904"],"related_works":["https://openalex.org/W1250816784","https://openalex.org/W2029471292","https://openalex.org/W1993136260","https://openalex.org/W2093289653","https://openalex.org/W2057906434","https://openalex.org/W2621717445","https://openalex.org/W2413264833","https://openalex.org/W2978396047","https://openalex.org/W2045387112","https://openalex.org/W2416237850"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}