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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Veröffentlicht in:	Clinical genetics 2018-01, Vol.93 (1), p.119-125
Hauptverfasser:	Al-Obeidi, Ebaa, Al-Tahan, Sejad, Surampalli, Abhilasha, Goyal, Namita, Wang, Annabel, Hermann, Andreas, Omizo, Molly, Smith, Charles, Mozaffar, Tahseen, Kimonis, Virginia
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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