Abstract |
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.
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Authors | Xian-ning Zhang, Wei Mao, Xin-hui He, Zheng Lai |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 21
Issue 4
Pg. 372-5
(Aug 2004)
ISSN: 1003-9406 [Print] China |
PMID | 15300637
(Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
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Topics |
- Humans
- Keratin-9
(genetics, physiology)
- Keratoderma, Palmoplantar, Epidermolytic
(genetics, pathology, physiopathology)
- Mutation
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