title: A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
authors.affiliation: Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Gupta
authors.forename: T
authors.initials: T
authors.lastname: Benstead
authors.forename: P
authors.initials: P
authors.lastname: Neumann
authors.forename: D
authors.initials: D
authors.lastname: Guernsey
mesh_terms: 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
chemical_list: D003062:Codon; D017630:Connexins; D015252:Deoxyribonucleases, Type II Site-Specific; D000097002:Gap Junction beta-1 Protein; C027046:TCGA-specific type II deoxyribonucleases