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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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| Publicado en: | Case Rep Genet |
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| Autores principales: | , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Hindawi Publishing Corporation
2015
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| Materias: | |
| Acceso en línea: | 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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