Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
Rautenstrauss
Bernd
B
Universitätsklinikum Erlangen, Humangenetisches Institut, Schwabachanlage, 10, 91054, Erlangen, Germany. bernd.rautenstrauss@humgenet.uni-erlangen.de
Huehne
Kathrin
K
Thiel
Christian
C
Kraus
Cornelia
C
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*; D021382:Protein Sorting Signals / Q000235:genetics
D003062:Codon; D018993:Myelin P0 Protein; D021382:Protein Sorting Signals