A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
Department of Dermatology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
T
T
Tsuda
C
C
Ishikawa
N
N
Nakagawa
H
H
Konishi
M
M
Tarutani
M
M
Matsuki
K
K
Yamanishi
D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005260:Female; D015870:Gene Expression; D018859:Hair Follicle / Q000378:metabolism; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D053553:Keratin-6 / Q000235:genetics; D053549:Pachyonychia Congenita / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D017354:Point Mutation; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
D053537:Keratin-17; D053553:Keratin-6