Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

Neuromuscular Disorders

Volumn 20, Issue 6, 2010, Pages 422-427

  Abbs, Stephen ^a   Tuffery Giraud, Sylvie ^b   Bakker, Egbert ^c   Ferlini, Alessandra ^d   Sejersen, Thomas ^e   Mueller, Clemens R ^f  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIV MONTPELLIER   (France)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF FERRARA   (Italy)

^e KAROLINSKA INSTITUTE   (Sweden)

^f UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BECKER MUSCULAR DYSTROPHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DUCHENNE MUSCULAR DYSTROPHY; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; QUANTITATIVE ANALYSIS; GENETICS; HETEROZYGOTE; MALE; MUSCULAR DYSTROPHY, DUCHENNE;

GENE DELETION; GENE DUPLICATION; GUIDELINES AS TOPIC; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PRENATAL DIAGNOSIS; QUALITY CONTROL;

EID: 77953124090     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.04.005     Document Type: Article

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