[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.
Department of Genetics, School of Medicine, Ningbo University, Ningbo, Zhejiang, 315211 PR China.
Xian-ning
XN
Zhang
Wei
W
Mao
Xin-hui
XH
He
Zheng
Z
Lai
D006801:Humans; D053534:Keratin-9 / Q000235:genetics* / Q000502:physiology; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation
D053534:Keratin-9