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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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2012
Sujets:
Original Paper
Accès en ligne: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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