A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
Li
X L
XL
Xiao
S X
SX
Peng
Z H
ZH
Liu
Y
Y
Pan
M
M
Zhou
S N
SN
D000595:Amino Acid Sequence; D002675:Child, Preschool; D002681:China; D017124:Conserved Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
D007633:Keratins