A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
W
W
Wang
L H
LH
Liu
G
G
Chen
M
M
Gao
J
J
Zhu
F S
FS
Zhou
H
H
Cheng
H Y
HY
Tang
B Y
BY
Wu
L D
LD
Sun
S
S
Yang
P G
PG
Wang
X J
XJ
Zhang
D002648:Child; D002681:China; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D056266:Erythrokeratodermia Variabilis / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D017630:Connexins; C068044:GJB3 protein, human