Article
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
The British journal of dermatology - 1 Jul 2013
Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, Ott H, Hyla-Klekot L, Gacka E, Sieron A L, Valari M, Bruckner-Tuderman L, Has C
Abstract excerpt
BACKGROUND: Integrin α6β4 is a transmembrane receptor and a key component of the hemidesmosome anchoring complex. It is involved in cell-matrix adhesion and signalling in various tissues. Mutations in the ITGA6 and ITGB4 genes coding for α6β4 integrin compromise dermal-epidermal adhesion and are associated with skin blistering and pyloric atresia (PA), a disorder known as epidermolysis bullosa with PA (EB-PA)....
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