A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
作者信息
Nishie Wataru, Natsuga Ken, Nakamura Hideki, Ito Takamasa, Toyonaga Ellen, Sato Hidetsugu, Shimizu Hiroshi
机构信息
Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
出版信息
J Dermatol Sci. 2014 Jul;75(1):69-71. doi: 10.1016/j.jdermsci.2014.04.006. Epub 2014 Apr 18.
Abstract
摘要
Zotero 插件