title: Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth syndrome type X.
authors: Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany. bernd.rautenstrauss@humgenet.uni-erlangen.de
authors: Bernd
authors: B
authors: Rautenstrauss
authors: Kathrin
authors: K
authors: Huehne
authors: Christian
authors: C
authors: Thiel
authors: Cornelia
authors: C
authors: Kraus
mesh_terms: D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D003062:Codon / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D000097002:Gap Junction beta-1 Protein
chemical_list: D003062:Codon; D017630:Connexins; D000097002:Gap Junction beta-1 Protein