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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: Springer-Verlag 2012
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Original Paper
Online pristup: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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