Inherited defects in keratins
2005; Elsevier BV; Volume: 23; Issue: 1 Linguagem: Inglês
10.1016/j.clindermatol.2004.09.014
ISSN1879-1131
Autores Tópico(s)Dermatologic Treatments and Research
ResumoIn the years following the initial reports of keratin gene mutations in epidermolysis bullosa simplex, great strides have been made in understanding the basic biology of human keratins and in understanding the etiology and pathogenesis of a number of specific human single gene disorders. A total of 19 human keratin genes is now linked to specific diseases. This article summarizes current knowledge in relation to basic keratin biology, known disease associations, and genotype correlation in this diverse and complex group of conditions.
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