A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
Hashiguchi
Takaki
T
Yotsumoto
Shinichi
S
Shimada
Hidehiko
H
Terasaki
Kenjiro
K
Setoyama
Mitsuru
M
Kobayashi
Keiko
K
Saheki
Takeyori
T
Kanzaki
Tamotsu
T
D000328:Adult; D044466:Asian People / Q000235:genetics; D003560:Cysts / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007564:Japan; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009260:Nail Diseases / Q000235:genetics*; D017354:Point Mutation; D012871:Skin Diseases / Q000235:genetics*
D007633:Keratins