Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50's wa...

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Enregistré dans:
Détails bibliographiques
Publié dans:Case Rep Genet
Auteurs principaux: Jerath, Nivedita U., Crockett, Cameron D., Moore, Steven A., Shy, Michael E., Weihl, Conrad C., Chou, Tsui-Fen, Grider, Tiffany, Gonzalez, Michael A., Zuchner, Stephan, Swenson, Andrea
Format: Artigo
Langue:Inglês
Publié: Hindawi Publishing Corporation 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4386706/
https://ncbi.nlm.nih.gov/pubmed/25878907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/239167
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