Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X.
Kötting
Judith
J
RUHR-Universität Bochum, Humangenetik, Universitätsstrasse, 150, 44801 Bochum, Germany. Judith.Koetting@rub.de
Roque Daniel
Carrero-Valenzuela
CV
Abdala
Mirtha Esther
ME
Epplen
Jörg Thomas
JT
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D000097002:Gap Junction beta-1 Protein
D003062:Codon; D017630:Connexins; D000097002:Gap Junction beta-1 Protein