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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Detaylı Bibliyografya
Yayımlandı:Clin Genet
Asıl Yazarlar: Al-Obeidi, Ebaa, Al-Tahan, Sejad, Surampalli, Abhilasha, Goyal, Namita, Wang, Annabel, Hermann, Andreas, Omizo, Molly, Smith, Charles, Mozaffar, Tahseen, Kimonis, Virginia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Article
Online Erişim: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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