Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
Uchida
Takafumi
T
Inaoki
Makoto
M
Makino
Eiichi
E
Fujimoto
Wataru
W
D000225:Adenine; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D006147:Guanine; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009260:Nail Diseases / Q000235:genetics*; D010375:Pedigree
D006147:Guanine; D007633:Keratins; D000225:Adenine