A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
Nomura
K
K
Department of Dermatology, Hirosaki University School of Medicine, Japan.
Umeki
K
K
Meng
X
X
Tamai
K
K
Sawamura
D
D
Hosokawa
M
M
Miyazawa
T
T
Funayama
M
M
Hashimoto
I
I
D000595:Amino Acid Sequence; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation
D007633:Keratins