Genetic disorders of keratins and their associated proteins

被引：11

作者：

Fuchs, E

机构：

[1] Howard Hughes Medical Institute, Dept. of Molec. Genet./Cell Biol., University of Chicago, Chicago, IL 60637

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 1996年 / 13卷 / 03期

关键词：

keratin; genetic disorders; epidermolysis bullosa simplex;

D O I：

10.1016/S0923-1811(96)00568-3

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

It has recently been demonstrated that genetic defects in keratin genes cause a number of different skin disorders, including epidermolysis bullosa simplex (EBS), epidermolytic hyperkeratosis (EH), the EH form of epidermal nevi, epidermolytic and non-epidermolytic forms of palmoplantar keratoderma (EPPK and PPK) and pachyonychia congenita (PC). In this review, I describe the research that led to this discovery.

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页码：181 / 192

页数：12

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