A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
Gupta
S
S
Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Benstead
T
T
Neumann
P
P
Guernsey
D
D
D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D003062:Codon; D017630:Connexins / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D003062:Codon; D017630:Connexins; D015252:Deoxyribonucleases, Type II Site-Specific; D000097002:Gap Junction beta-1 Protein; C027046:TCGA-specific type II deoxyribonucleases