X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Orth
U
U
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Fairweather
N
N
Exler
M C
MC
Schwinger
E
E
Gal
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein