Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
T
T
Yoshimura
A
A
Ohnishi
T
T
Yamamoto
Y
Y
Fukushima
M
M
Kitani
T
T
Kobayashi
D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D000097002:Gap Junction beta-1 Protein; C024388:CTGCAG-specific type II deoxyribonucleases