A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis.
Wang
Z-X
ZX
Lu
W-S
WS
Li
H
H
Lin
D
D
Zhou
F-S
FS
Sun
L-D
LD
Yang
S
S
Zhang
X-J
XJ
D002681:China; D017630:Connexins / Q000235:genetics*; D056266:Erythrokeratodermia Variabilis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020125:Mutation, Missense
D017630:Connexins; C068044:GJB3 protein, human