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AB029. Next generation sequencing analysis in hereditary muscle diseases

Still many cases with probable hereditary myopathy are genetically undiagnosed for two major reasons: (I) muscle genes are often big in size and thus it is difficult to at least routinely sequence such genes even though mutations in those genes have been known to cause muscle diseases; and (II) most...

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Détails bibliographiques
Publié dans:Ann Transl Med
Auteur principal: Nishino, Ichizo
Format: Artigo
Langue:Inglês
Publié: AME Publishing Company 2015
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563503/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB029
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