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Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)

Duchenne muscular dystrophy (DMD), a progressive X-linked neuromuscular disorder, has an estimated worldwide incidence of 1:3500 male births. Currently, there are no curative treatments and the mean age of diagnosis is 5 years. In addition, subsequent pregnancies frequently occur before a diagnosis...

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Detalhes bibliográficos
Main Authors: Moat, Stuart J, Bradley, Donald M, Salmon, Rachel, Clarke, Angus, Hartley, Louise
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778339/
https://ncbi.nlm.nih.gov/pubmed/23340516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.301
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