Present status of the molecular genetics in epidermolytic palmoplantar keratoderma.
- Author:
Xian-ning ZHANG
1
;
Wei MAO
;
Xin-hui HE
;
Zheng LAI
Author Information
1. Department of Genetics, School of Medicine, Ningbo University, Ningbo, Zhejiang, 315211 PR China.
- Publication Type:Journal Article
- MeSH:
Humans;
Keratin-9;
genetics;
physiology;
Keratoderma, Palmoplantar, Epidermolytic;
genetics;
pathology;
physiopathology;
Mutation
- From:
Chinese Journal of Medical Genetics
2004;21(4):372-375
- CountryChina
- Language:Chinese
-
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.