Gene symbol: KRT14. Disease: Epidermolysis bullosa simplex.
Schneider
H
H
Children's Hospital and Nikolaus Fiebiger Centre of Molecular Medicine, University of Erlangen-Nuernberg, Loschgestrasse 15, 91054 Erlangen, Germany. hschneid@molmed.uni-erlangen.de
Muehle
C
C
D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D017354:Point Mutation
D003062:Codon; C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins