Microarray-based mutation detection in thedystrophingene
نویسندگان
چکیده
منابع مشابه
Microarray-based mutation detection in the dystrophin gene.
Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene affecting approximately 1 in 3,500 males. The human dystrophin gene spans>2,200 kb, or roughly 0.1% of the genome, and is composed of 79 exons. The mutational spectrum of disease-causing alleles, including exonic copy number variations (CNVs), is compl...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2008
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.20831