Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

Human Mutation, EarlyView.

Source: Human Mutation - August 3, 2018 Category: Genetics & Stem Cells Authors: HassanVahidnezhad , LeilaYoussefian , Amir HosseinSaeidian , AndrewTouati , SoheilaSotoudeh , AliJazayeri , AlysonGuy , Patricia A.Lovell , LuLiu , ArianaKariminejad , John A.McGrath , SirousZeinali , JouniUitto Source Type: research