Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
Bai
Z-L
ZL
Feng
Y-G
YG
Tan
S-S
SS
Wang
X-Y
XY
Xiao
S-X
SX
Wang
H
H
Jia
H-Q
HQ
Wu
J-W
JW
He
D-L
DL
Kang
R-H
RH
D000328:Adult; D000368:Aged; D044466:Asian People; D005260:Female; D006801:Humans; D053536:Keratin-16 / Q000235:genetics*; D053553:Keratin-6 / Q000235:genetics*; D053530:Keratins, Type I / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D053549:Pachyonychia Congenita / Q000235:genetics*; D010375:Pedigree
C507431:KRT16 protein, human; C507569:KRT6A protein, human; D053536:Keratin-16; D053553:Keratin-6; D053530:Keratins, Type I