{"id":"https://openalex.org/W1887923955","doi":null,"title":"Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.","display_name":"Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.","publication_year":1994,"publication_date":"1994-04-01","ids":{"openalex":"https://openalex.org/W1887923955","mag":"1887923955","pmid":"https://pubmed.ncbi.nlm.nih.gov/8128967","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918112"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1918112","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918112","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918112","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046289689","display_name":"Olivier Clermont","orcid":"https://orcid.org/0000-0003-3961-1397","observed_orcids":["https://orcid.org/0000-0003-3961-1397"]},"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/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"O Clermont","raw_affiliation_strings":["Unit\u00e9 de Recherches sur les Handicaps G\u00e9n\u00e9tiques de l'Enfant, INSERM U-12, H\u00f4pital des Enfants-Malades, Paris, France","Universit\u00e9 Paris-5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de Recherches sur les Handicaps G\u00e9n\u00e9tiques de l'Enfant, INSERM U-12, H\u00f4pital des Enfants-Malades, Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Universit\u00e9 Paris-5","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109166611","display_name":"Philippe Burlet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P Burlet","raw_affiliation_strings":["Universit\u00e9 Paris-5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-5","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067722631","display_name":"Lydie B\u00fcrglen","orcid":"https://orcid.org/0000-0002-1119-6809","observed_orcids":["https://orcid.org/0000-0002-1119-6809"]},"institutions":[{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L Burglen","raw_affiliation_strings":["Universit\u00e9 Paris-5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-5","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103551850","display_name":"Suzie Lefebvre","orcid":"https://orcid.org/0000-0002-2862-1699","observed_orcids":["https://orcid.org/0000-0002-2862-1699"]},"institutions":[{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S Lefebvre","raw_affiliation_strings":["Universit\u00e9 Paris-5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-5","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059030603","display_name":"Fabrice Pascal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387156284","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I4387156284"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F Pascal","raw_affiliation_strings":["Universit\u00e9 Paris-5"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris-5","institution_ids":["https://openalex.org/I4387156284"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047690257","display_name":"John D. McPherson","orcid":"https://orcid.org/0000-0001-8049-9347","observed_orcids":["https://orcid.org/0000-0001-8049-9347"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J McPherson","raw_affiliation_strings":["Biochemistry and Molecular Medicine,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry and Molecular Medicine,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108192765","display_name":"John J. Wasmuth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I204250578","display_name":"University of California, Irvine","ror":"https://ror.org/04gyf1771","country_code":"US","type":"education","lineage":["https://openalex.org/I204250578"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J J Wasmuth","raw_affiliation_strings":["University of California, at Irvine#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of California, at Irvine#TAB#","institution_ids":["https://openalex.org/I204250578"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085493727","display_name":"Daniel Cohen","orcid":"https://orcid.org/0000-0001-8227-0909","observed_orcids":["https://orcid.org/0000-0001-8227-0909"]},"institutions":[{"id":"https://openalex.org/I2802309713","display_name":"Fondation Jean Dausset-CEPH","ror":"https://ror.org/01rje3r53","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I2802309713"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"D Cohen","raw_affiliation_strings":["Fondation Jean Dausset - CEPH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fondation Jean Dausset - CEPH","institution_ids":["https://openalex.org/I2802309713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073953803","display_name":"Denis Le Paslier","orcid":"https://orcid.org/0000-0003-4335-9956","observed_orcids":["https://orcid.org/0000-0003-4335-9956"]},"institutions":[{"id":"https://openalex.org/I2802309713","display_name":"Fondation Jean Dausset-CEPH","ror":"https://ror.org/01rje3r53","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I2802309713"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"D Le Paslier","raw_affiliation_strings":["Fondation Jean Dausset - CEPH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fondation Jean Dausset - CEPH","institution_ids":["https://openalex.org/I2802309713"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107599557","display_name":"Jean Weissenbach","orcid":"https://orcid.org/0000-0001-6564-0840","observed_orcids":["https://orcid.org/0000-0001-6564-0840"]},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J Weissenbach","raw_affiliation_strings":["Institut Pasteur Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut Pasteur Paris","institution_ids":["https://openalex.org/I157536573"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":6.9395,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.97616683,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"54","issue":"4","first_page":"687","last_page":"94"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.9063000082969666,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.9063000082969666,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.07699999958276749,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.0032999999821186066,"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/spinal-muscular-atrophy","display_name":"spinal muscular atrophy","score":0.9959999918937683},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.7020000219345093},{"id":"https://openalex.org/keywords/chromosome-5q13","display_name":"chromosome 5q13","score":0.9769999980926514},{"id":"https://openalex.org/keywords/microsatellite-markers","display_name":"microsatellite markers","score":0.8849999904632568},{"id":"https://openalex.org/keywords/physical-mapping","display_name":"physical mapping","score":0.5659999847412109},{"id":"https://openalex.org/keywords/homozygosity-by-descent","display_name":"homozygosity by descent","score":0.8059999942779541},{"id":"https://openalex.org/keywords/gene-order","display_name":"gene order","score":0.4449999928474426}],"concepts":[{"id":"https://openalex.org/C161921814","wikidata":"https://www.wikidata.org/wiki/Q493743","display_name":"SMA*","level":2,"score":0.8639647960662842},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.8308521509170532},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7804012298583984},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.718222439289093},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7062567472457886},{"id":"https://openalex.org/C61320498","wikidata":"https://www.wikidata.org/wiki/Q265193","display_name":"Microsatellite","level":4,"score":0.5771700143814087},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.575629472732544},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.4816833436489105},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44962745904922485},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.31267982721328735},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.24926605820655823},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.05391305685043335},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008040","descriptor_name":"Genetic Linkage","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":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018244","descriptor_name":"Chromosomes, Artificial, Yeast","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:1918112","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918112","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:8128967","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8128967","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":"Journal Article"},{"id":"mag:1887923955","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8128967","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":{"id":"pmh:oai:pubmedcentral.nih.gov:1918112","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918112","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.7246000170707703,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":16,"referenced_works":["https://openalex.org/W1549470101","https://openalex.org/W1954373641","https://openalex.org/W1973362880","https://openalex.org/W1973745643","https://openalex.org/W1983938305","https://openalex.org/W1986422257","https://openalex.org/W1988276998","https://openalex.org/W2026841516","https://openalex.org/W2044280604","https://openalex.org/W2062943152","https://openalex.org/W2063970228","https://openalex.org/W2081735313","https://openalex.org/W2083093687","https://openalex.org/W2084329802","https://openalex.org/W2086436079","https://openalex.org/W2096899512"],"related_works":["https://openalex.org/W70581114","https://openalex.org/W1973362880","https://openalex.org/W1607165203","https://openalex.org/W2087729410","https://openalex.org/W2086436079","https://openalex.org/W2135333360","https://openalex.org/W2401519517","https://openalex.org/W2032738620","https://openalex.org/W1954373641","https://openalex.org/W2411185289"],"abstract_inverted_index":{"The":[0],"gene":[1,66],"for":[2,76,105,119],"autosomal":[3],"recessive":[4],"forms":[5],"of":[6,63,88],"spinal":[7],"muscular":[8],"atrophy":[9],"(SMA)":[10],"has":[11],"recently":[12],"been":[13],"mapped":[14],"to":[15,46,58,124],"chromosome":[16],"5q13,":[17],"within":[18],"a":[19],"4-cM":[20],"region":[21],"between":[22,79],"the":[23,43,47,53,60,64,72,83,106,117,130],"blocks":[24],"D5S465/D5S125":[25],"and":[26,39,82,97,128],"MAP-1B/D5S112.":[27],"We":[28],"identified":[29],"two":[30],"new":[31],"highly":[32],"polymorphic":[33],"microsatellite":[34],"DNA":[35],"markers--namely,":[36],"AFM265wf5":[37],"(D5S629)":[38],"AFM281yh9":[40],"(D5S637)--which":[41],"are":[42],"closest":[44],"markers":[45],"SMA":[48,65,77,90,131],"locus.":[49],"Multilocus":[50],"analysis":[51,87],"by":[52,95],"location-score":[54],"method":[55],"was":[56],"used":[57],"establish":[59],"best":[61],"estimate":[62],"location.":[67],"Our":[68],"data":[69,115],"suggest":[70],"that":[71],"most":[73],"likely":[74],"location":[75],"is":[78],"locus":[80],"D5S629":[81],"block":[84],"D5S637/D5S351/MAP-1B/D5S112/D5S357.":[85],"Genetic":[86],"inbred":[89],"families,":[91],"based":[92],"on":[93],"homozygosity":[94],"descent":[96],"physical":[98],"mapping":[99],"using":[100],"mega-YACs,":[101],"gave":[102],"additional":[103],"information":[104],"loci":[107],"order":[108,123],"as":[109],"follows:":[110],"cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+":[111],"++D5S637-D5S351-MAP-1B/D5S112-D5S357-":[112],"D5S39-tel.":[113],"These":[114],"give":[116],"direction":[118],"bidirectional":[120],"walking":[121],"in":[122],"clone":[125],"this":[126],"interval":[127],"isolate":[129],"gene.":[132]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}