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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
Reference
DiseaseOntology: Epidermolysis bullosa
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14452 | Q9UMD9 | 1308 | COL17A1 | Collagen alpha-1 chain [Cleaved into: 120 kDa linear IgA disease antigen ; 97 kDa linear IgA disease antigen ] | Homo sapiens |
