Thesis / Dissertation

Models and treatments of Dominant Dystrophic Epidermolysis Bullosa

Blake Robert Cordingley Smith, Ken Chung-Ren Pang (ed.)

Published : 2021

Abstract

Epidermolysis bullosa (EB) is a group of genetic blistering disorders caused by mutations in the structural proteins of the skin. EB is characterised anatomically by skin fragility, blistering and scarring, and frequently results in pain, itch and – in severe cases – death. The dystrophic subtype of EB is caused by mutations in the human COL7A1 gene which encodes for collagen VII, and can be inherited in either a dominant or recessive manner. Dominant dystrophic epidermolysis bullosa (DDEB) is commonly caused by glycine substitutions within the collagenous domain of collagen VII. Improving understanding of the pathophysiology of DDEB should enable the development of more effective treatmen..

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