A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
Yamanishi
K
K
Department of Dermatology, Kyoto Prefectural University of Medicine, Japan.
Matsuki
M
M
Konishi
K
K
Yasuno
H
H
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000145:classification / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017433:Protein Structure, Secondary; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
D003062:Codon; D007633:Keratins