[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
In this article we reviewed the current researches on the molecular basis of epidermolytic palmoplantar keratoderma (EPPK) and the structure and function of the keratins with mutations that can cause inherited keratin disorders. Also summarized are seventeen mutations of keratin 9 in EPPK in different ethnic populations.
Zhang
Xian-ning
XN
Department of Genetics, School of Medicine, Ningbo University, Ningbo, Zhejiang, 315211 PR China.
Mao
Wei
W
He
Xin-hui
XH
Lai
Zheng
Z
D006801:Humans; D053534:Keratin-9 / Q000235:genetics* / Q000502:physiology; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation
D053534:Keratin-9