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Epidermolysis Bullosa: To Split and to Clump
Author(s) -
Eady Robin A. J.
Publication year - 1992
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1992.tb00631.x
Subject(s) - epidermolysis bullosa , medicine , dermatology , linkage (software) , junctional epidermolysis bullosa (veterinary medicine) , gene , genetics , mutation , biology
During the past few years various proteins have come to the forefront as underlying the structural abnormalities of different forms of epldermolysls bullosa. Only very recently has linkage been established between certain major forms of epidermolysis bullosa and the genes encoding some of these proteins, and mutations of these genes identified. The stage will soon be set for providing a new and rational basis for a better understanding of the pathogenesis of epidermolysis bullosa, for improving diagnosis, including prenatal testing, and for devising new approaches to treatment