A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 823-828

  Van der Maarel, Silvère M ^a   Deidda, Giancarlo ^a,b   Lemmers, Richard J L F ^a   Bakker, Egbert ^a   Van der Wielen, Michiel J R ^a   Sandkuijl, Lodewijk ^a   Hewitt, Jane E ^c,e   Padberg, George W ^d   Frants, Rune R ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CNR   (Italy)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

Diagnosis; Dosage; FSHD; Subtelomere

Indexed keywords

RESTRICTION ENDONUCLEASE;

ARTICLE; ARTIFICIAL MEMBRANE; CASE REPORT; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 4; CLINICAL TRIAL; COMPUTER PROGRAM; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIAGNOSTIC TEST; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GEL ELECTROPHORESIS; GENE MAPPING; HUMAN; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETIC ANALYSIS; HUMANS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; SENSITIVITY AND SPECIFICITY; TRANSLOCATION, GENETIC;

EID: 0032736540     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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