A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
Indelman
Margarita
M
Bergman
Reuven
R
Sprecher
Eli
E
D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins