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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Vydáno v:Brain
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2016
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On-line přístup: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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