De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

We performed whole exome sequencing on a patient with Charcot–Marie–Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from the proband to his one affected son, and segregates with clinical and electrophy...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R., Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5022672/
https://ncbi.nlm.nih.gov/pubmed/27009151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww055
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