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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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Detalhes bibliográficos
Publicado no:Ann Transl Med
Autor principal: Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
Assuntos:
Acesso em linha: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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