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Browse result for Epidermolysis bullosa

※ introduction

    A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

Reference
DiseaseOntology: Epidermolysis bullosa



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14452Q9UMD91308
COL17A1
Collagen alpha-1 chain [Cleaved into: 120 kDa linear IgA disease antigen ; 97 kDa linear IgA disease antigen ]
Homo sapiens