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Epidermolysis "bullosa," junctional "4," intermediate
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE; JEB1A EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; JEB1B PubMed ...
- ... LAMA3 gene mutations cause the milder form of junctional epidermolysis bullosa, JEB generalized intermediate. Some of these mutations alter single protein building ...
- ... COL17A1 gene mutations cause the milder form of junctional epidermolysis bullosa, known as JEB generalized intermediate. Affected individuals experience blistering, but it may be ...
- ... Pfendner E, Rouan F, Uitto J. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705. ...