KRT5
keratin 5
Ассоциированные заболевания
Герминативная мутация (причина)5
Epidermolysis bullosa simplex with circinate migratory erythemaORPHA:158681
→Autosomal dominant generalized epidermolysis bullosa simplex, severe formORPHA:79396
→Epidermolysis bullosa simplex with mottled pigmentationORPHA:79397
→Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formORPHA:79399
→Localized epidermolysis bullosa simplexORPHA:79400
→Disease-causing germline mutation(s) (loss of function) in1