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.