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Molecular diagnosis of Duchenne muscular dystrophy
Sarlo, Laís Gomes; da Silva, Antonio Francisco Alves; Medina-Acosta, EnriqueDuchenne muscular dystrophy is the most frequent recessive X-linked genetic disease in humans, affecting 1 in 3500 born males. It is caused by mutations in the DMD gene, localized in the Xp21.2- Xp21.1 chromosomal region, which codes for dystrophin, a cytoskeleton protein found in the inner surface of muscle fibers. Pathogenic mutations are heterogeneous in nature and a considerably large number has been descri...
Data: 2009
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Origem: Oasisbr