Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

Human Genetics

Volumn 116, Issue 4, 2005, Pages 262-266

  Buzhov, Borian T ^a,b   Lemmers, Richard J L F ^b   Tournev, Ivailo ^a   Dikova, Chayka ^a   Kremensky, Ivo ^a   Petrova, Julia ^a   Frants, Rune R ^b   van der Maarel, Silvère M ^b  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 10; CHROMOSOME 10Q; CHROMOSOME 4; CHROMOSOME 4Q; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 4; DNA DETERMINATION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN CELL; MUSCLE BIOPSY; PATHOGENESIS; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; SEGREGATION ANALYSIS; TANDEM REPEAT;

AGED; CHROMOSOMES, HUMAN, PAIR 10; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; HUMANS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE;

EID: 14044260104     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1237-0     Document Type: Article

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