JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins.
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.
Fuchs
E
E
Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, IL 60637, USA.
D000818:Animals; D030342:Genetic Diseases, Inborn; D006801:Humans; D007633:Keratins / Q000235:genetics*
D007633:Keratins