Article
Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.
JAMA dermatology - 1 May 2016
Turcan Iana, Pasmooij Anna M G, van den Akker Peter C, Lemmink Henny, Halmos Gyorgy B, Sinke Richard J, Jonkman Marcel F
Abstract excerpt
IMPORTANCE: Epidermolysis bullosa (EB) is a group of mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Mutations in the ITGA6 and ITGB4 genes, encoding the hemidesmosomal protein α6β4-integrin, have been involved in the pathogenesis of EB. To date, the inheritance of these particular genes is known to be exclusively autosomal recessive. Herein, we report a novel...
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