Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X.
Lin Z, et al. Among authors: tan x.
Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31.
Nat Genet. 2016.
PMID: 27798626