Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Autor: Nellen, Ruud G. L.1,2, Nagtzaam, Ivo F.1,2, Hoogeboom, A. Jeannette M.3, Bladergroen, Reno S.1, Jonkman, Marcel F.4, Steijlen, Peter M.1,2, Steensel, Maurice A. M.1,2,5,6, Geel, Michel1,2,5
Zdroj: Experimental Dermatology. Nov2015, Vol. 24 Issue 11, p883-885. 3p.
Databáze: Academic Search Ultimate