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Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the...
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| Publicado no: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5739971/ https://ncbi.nlm.nih.gov/pubmed/28692196 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13095 |
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