Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss
Bernd
B
University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany. bernd.rautenstrauss@humgenet.uni-erlangen.de
Huehne
Kathrin
K
D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics*
D003062:Codon; D018993:Myelin P0 Protein