Article
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
The British journal of dermatology - 1 Jan 2015
Takeichi T, Liu L, Fong K, Ozoemena L, McMillan J R, Salam A, Campbell P, Akiyama M, Mellerio J E, McLean W H I, Simpson M A, McGrath J A
Abstract excerpt
BACKGROUND: Subtypes of inherited epidermolysis bullosa (EB) vary significantly in their clinical presentation and prognosis. Establishing an accurate diagnosis is important for genetic counselling and patient management. Current approaches in EB diagnostics involve skin biopsy for immunohistochemistry and transmission electron microscopy, and Sanger sequencing of candidate genes. Although informative in most...
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