Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. J Invest Dermatol. 2003 Apr; 120(4):623-6.

View in: PubMed