{"id":"https://openalex.org/W150802456","doi":null,"title":"[Use of CA repeat polymorphism in direct and indirect diagnosis of Duchenne and Becker muscular dystrophy].","display_name":"[Use of CA repeat polymorphism in direct and indirect diagnosis of Duchenne and Becker muscular dystrophy].","publication_year":1997,"publication_date":"1997-02-05","ids":{"openalex":"https://openalex.org/W150802456","mag":"150802456","pmid":"https://pubmed.ncbi.nlm.nih.gov/9221176"},"language":"sk","primary_location":{"id":"pmid:9221176","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9221176","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":"Casopis lekaru ceskych","raw_type":"English Abstract"},"volume":null,"type":"article","is_traditional":true,"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/A5008328370","display_name":"Zuzana Mu\u0161ov\u00e1","orcid":"https://orcid.org/0000-0002-6328-8051","observed_orcids":["https://orcid.org/0000-0002-6328-8051"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Z Musov\u00e1","raw_affiliation_strings":["Odd. klinick\u00e9 genetiky I, FN Motol, Praha"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Odd. klinick\u00e9 genetiky I, FN Motol, Praha","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110561585","display_name":"V\u00e1clav Ma\u0165o\u0161ka","orcid":"https://orcid.org/0009-0005-3459-6193","observed_orcids":["https://orcid.org/0009-0005-3459-6193"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V Mat'oska","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036594792","display_name":"Sarka Krejcova","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Krejcov\u00e1","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5074918964","display_name":"Arp\u00e1d B\u00f3day","orcid":"https://orcid.org/0000-0001-8737-511X","observed_orcids":["https://orcid.org/0000-0001-8737-511X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A B\u00f3day","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.00798272,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"136","issue":"3","first_page":"90","last_page":"4"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9434000253677368,"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"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9434000253677368,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.040300000458955765,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0027000000700354576,"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/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9929999709129333},{"id":"https://openalex.org/keywords/becker-muscular-dystrophy","display_name":"Becker muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/dmd-gene","display_name":"dystrophin gene","score":0.8009999990463257},{"id":"https://openalex.org/keywords/ca-repeat-polymorphism","display_name":"CA repeat polymorphism","score":0.9300000071525574},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.9879999756813049},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.8209999799728394},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9769999980926514},{"id":"https://openalex.org/keywords/recombination","display_name":"recombination","score":0.609000027179718}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7810034155845642},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.7219716310501099},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.637180507183075},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6158457398414612},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.5382648706436157},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.46733081340789795},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.41634559631347656},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.40589916706085205},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35489124059677124},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35277947783470154},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.34378674626350403},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1981637179851532},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.10519373416900635},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0676836371421814}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","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":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:9221176","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9221176","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":"Casopis lekaru ceskych","raw_type":"English Abstract"},{"id":"mag:150802456","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9221176","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1966286033","https://openalex.org/W2434565704","https://openalex.org/W1603891360","https://openalex.org/W1996927072","https://openalex.org/W2403117252","https://openalex.org/W2043377092","https://openalex.org/W2393178959","https://openalex.org/W2084460867","https://openalex.org/W2061348434","https://openalex.org/W1533695726"],"abstract_inverted_index":{"BACKGROUND:":[0],"DNA":[1,67],"analysis":[2,44,133],"makes":[3,172],"it":[4,100,173],"possible":[5,174],"to":[6,18,40,46,110,142,175],"confirm":[7],"the":[8,12,21,26,36,42,48,62,78,95,102,105,113,124,143,160],"clinical":[9],"diagnosis":[10,28,145,170],"of":[11,14,35,65,69,75,89,98,115,126,131,134,146,150,152,159,162,164],"majority":[13,97],"cases":[15],"DMD/BMD":[16,147],"and":[17,25,45,72,119,148,171],"detect":[19],"at":[20,31],"same":[22],"time":[23],"carries":[24],"prenatal":[27,144,169],"for":[29],"relatives":[30],"risk.":[32],"The":[33,57,87,129,157],"objective":[34],"present":[37],"work":[38],"was":[39],"improve":[41],"haplotype":[43,132],"identify":[47,179],"most":[49],"frequent":[50],"deletions":[51],"in":[52,77,94,104,181],"carries.":[53],"METHODS":[54],"AND":[55],"RESULTS:":[56],"method":[58],"is":[59,137],"based":[60],"on":[61,123],"initial":[63],"amplification":[64],"several":[66],"polymorphisms":[68,91],"CA":[70,90,135],"repetitions":[71,136],"subsequent":[73],"identification":[74],"alleles":[76,163],"denaturation":[79],"sequencing":[80],"polyacrylamide":[81],"gel":[82],"using":[83],"radioactive":[84],"detection":[85],"system.":[86],"system":[88],"provides":[92,120],"information":[93,122],"great":[96],"families,":[99],"detects":[101],"recombination":[103],"DMD":[106],"gene,":[107],"which":[108],"reduces":[109],"a":[111,116],"minimum":[112],"risk":[114],"diagnostic":[117],"error":[118],"valuable":[121],"carriership":[125,151],"deletion.":[127],"CONCLUSIONS:":[128],"introduction":[130],"beyond":[138],"doubt":[139],"an":[140],"asset":[141],"assessment":[149],"this":[153],"serious":[154],"hereditary":[155],"disease.":[156],"variability":[158],"length":[161],"these":[165],"markers":[166],"improves":[167],"analysis,":[168],"rule":[176],"out":[177],"or":[178],"deletion":[180],"cca":[182],"40%":[183],"carriers.":[184]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}