Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
EPG5 的隐性突变导致 Vici 综合征，这是一种自噬缺陷的多系统疾病
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.2497
Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F Hoffmann, Frits A Wijburg, Amber E ten Hoedt, R Curtis Rogers, David Manchester, Rie
