{"id":"https://openalex.org/W146342773","doi":null,"title":"Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.","display_name":"Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.","publication_year":1993,"publication_date":"1993-11-01","ids":{"openalex":"https://openalex.org/W146342773","mag":"146342773","pmid":"https://pubmed.ncbi.nlm.nih.gov/8087617"},"language":"en","primary_location":{"id":"pmid:8087617","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8087617","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":"Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie","raw_type":"Journal Article"},"volume":null,"type":"article","indexed_in":["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/A5108222728","display_name":"Catherine Dod\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210092774","display_name":"H\u00f4pital Cochin","ror":"https://ror.org/00ph8tk69","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210092774","https://openalex.org/I4210097159","https://openalex.org/I4210124464"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C Dod\u00e9","raw_affiliation_strings":["Laboratoire de Biochimie G\u00e9n\u00e9tique, h\u00f4pital Cochin, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie G\u00e9n\u00e9tique, h\u00f4pital Cochin, Paris, France","institution_ids":["https://openalex.org/I4210092774"]}]},{"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":[],"countries":[],"is_corresponding":false,"raw_author_name":"A D\u00fcrr","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109995738","display_name":"Christophe P\u00e9cheux","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C P\u00eacheux","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087556957","display_name":"J F Mouret","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J F Mouret","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111692103","display_name":"Samir Belal","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Belal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111745471","display_name":"L Bachner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Bachner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111717236","display_name":"Yves Agid","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y Agid","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113735558","display_name":"Kaplan Jc","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J C Kaplan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Brice","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5107861666","display_name":"J Feingold","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Feingold","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4808,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.52808357,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"316","issue":"11","first_page":"1374","last_page":"80"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","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"}}],"keywords":[{"id":"https://openalex.org/keywords/huntington-s-disease","display_name":"Huntington's disease","score":1.0},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.9800000190734863},{"id":"https://openalex.org/keywords/it15-gene","display_name":"IT15 gene","score":0.9200000166893005},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8830000162124634},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6549999713897705},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.8939999938011169},{"id":"https://openalex.org/keywords/4p16-3","display_name":"4p16.3","score":0.7889999747276306},{"id":"https://openalex.org/keywords/french-families","display_name":"French families","score":0.6050000190734863},{"id":"https://openalex.org/keywords/ccg-repeats","display_name":"CCG repeats","score":0.6660000085830688}],"concepts":[{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.8590790629386902},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7733457684516907},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7529717683792114},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.6852825880050659},{"id":"https://openalex.org/C2779105492","wikidata":"https://www.wikidata.org/wiki/Q4385680","display_name":"TaqI","level":5,"score":0.6463596820831299},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5347641110420227},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5235913991928101},{"id":"https://openalex.org/C2778146401","wikidata":"https://www.wikidata.org/wiki/Q10916362","display_name":"Disequilibrium","level":2,"score":0.4686545431613922},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.43338441848754883},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4283186197280884},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37558120489120483},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.19689452648162842},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.11001139879226685},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D005602","descriptor_name":"France","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005784","descriptor_name":"Gene Amplification","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:8087617","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8087617","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":"Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie","raw_type":"Journal Article"},{"id":"mag:146342773","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8087617","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3","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":0,"referenced_works":[],"related_works":["https://openalex.org/W1943069293","https://openalex.org/W2166057591","https://openalex.org/W2111669577","https://openalex.org/W2008025550","https://openalex.org/W2134575917","https://openalex.org/W2015614003","https://openalex.org/W2125033872","https://openalex.org/W2082264338","https://openalex.org/W2090689172","https://openalex.org/W7132954639"],"abstract_inverted_index":{"The":[0,46,104],"molecular":[1,93],"defect":[2,94],"causing":[3],"Huntington's":[4],"disease":[5,32],"(HD)":[6],"has":[7],"been":[8],"found":[9,152,161],"as":[10,157,172,182],"an":[11,173],"expansion":[12,37,60],"of":[13,21,38,49,114,132],"CAG":[14,40,65],"triplets":[15,41],"in":[16,82,108,129,153,187],"the":[17,25,30,36,39,64,73,83,92,101,112,154,190],"5'":[18],"coding":[19],"region":[20,42,67,77,131],"IT15":[22,137],"gene.":[23,138],"In":[24],"29":[26],"French":[27],"families":[28],"reported,":[29],"HD":[31,51,120,164],"is":[33,61,79,111],"due":[34],"to":[35,57,63,72,100,136],"above":[43],"38":[44],"copies.":[45],"complete":[47],"sequencing":[48],"10":[50],"alleles":[52],"PCR":[53,84],"products":[54],"allowed":[55],"us":[56],"confirm":[58],"that":[59],"restricted":[62],"repeat":[66,76],"and":[68,95,121,145],"does":[69],"not":[70],"extend":[71],"adjacent":[74],"CCG":[75],"which":[78],"also":[80],"present":[81],"product.":[85],"Then,":[86],"we":[87],"analysed":[88],"linkage":[89,117],"disequilibrium":[90,118],"between":[91,119],"6":[96],"DNA":[97],"markers":[98],"mapping":[99],"4p16.3":[102],"region.":[103],"most":[105],"striking":[106],"finding":[107],"this":[109],"study":[110],"presence":[113],"a":[115,130,176],"strong":[116],"D4S127":[122,143],"(PvuII),":[123],"D4S95":[124,146],"(AccI,":[125],"MboI,":[126],"TaqI)":[127],"located":[128],"130":[133],"kb":[134],"distal":[135],"Two":[139],"major":[140],"haplotypes,":[141],"comprising":[142],"(PvuII)":[144],"(MboI,":[147],"AccI)":[148],"polymorphic":[149],"sites,":[150],"were":[151],"normal":[155],"population":[156],"only":[158],"one":[159],"was":[160],"associated":[162],"with":[163],"alleles.":[165],"This":[166],"result":[167],"can":[168],"be":[169],"interpreted":[170],"either":[171],"evidence":[174],"for":[175],"rather":[177],"recent":[178],"founder":[179],"effect":[180],"or":[181],"several":[183],"independent":[184],"mutations":[185],"occuring":[186],"chromosomes":[188],"bearing":[189],"same":[191],"haplotype.":[192]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}