Condition: Epidermolysis Bullosa Simplex


rs60399023 in KRT14 gene and Epidermolysis Bullosa Simplex PMID 20151404 2010 The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

rs1565593355 in KRT5 gene and Epidermolysis Bullosa Simplex PMID 16465624 2006 Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

PMID 20199538 2010 Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.