A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.
Sasaki
Y
Y
Shimizu
H
H
Akiyama
M
M
Hiraoka
Y
Y
Takizawa
Y
Y
Yamada
S
S
Morishima
Y
Y
Yamanishi
K
K
Aiso
S
S
Nishikawa
T
T
D000818:Animals; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D053547:Keratin-14; D007633:Keratins / Q000235:genetics*; D009154:Mutation
C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins