Next generation sequencing for molecular diagnosis of neuromuscular diseases

Inherited neuromuscular disorders (NMD) are chronic genetic diseases posing a significant burden on patients and the health care system. Despite tremendous research and clinical efforts, the molecular causes remain unknown for nearly half of the patients, due to genetic heterogeneity and conventiona...

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Detalhes bibliográficos
Main Authors: Vasli, Nasim, Böhm, Johann, Le Gras, Stéphanie, Muller, Jean, Pizot, Cécile, Jost, Bernard, Echaniz-Laguna, Andoni, Laugel, Vincent, Tranchant, Christine, Bernard, Rafaelle, Plewniak, Frédéric, Vicaire, Serge, Levy, Nicolas, Chelly, Jamel, Mandel, Jean-Louis, Biancalana, Valérie, Laporte, Jocelyn
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
Assuntos:
Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3400754/
https://ncbi.nlm.nih.gov/pubmed/22526018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-012-0982-8
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