Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
Zhao
Jing-Jun
JJ
Zhang
Zheng-Hua
ZH
Niu
Zhen-Min
ZM
Xiang
Lei-Hong
LH
Ye
Xiao-Yin
XY
Huang
Wei
W
Zheng
Zhi-Zhong
ZZ
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D006801:Humans; D053556:Keratin-1 / Q000235:genetics; D053534:Keratin-9 / Q000235:genetics*; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology
D018076:DNA, Complementary; C491616:KRT1 protein, human; C507440:KRT9 protein, human; D053556:Keratin-1; D053534:Keratin-9