title: Novel human pathological mutations. Gene symbol: PMP22. Disease: Charcot-Marie-Tooth disease 1.
authors.affiliation: University Hospital Erlangen, Human Genetics, Schwabachanlage, 10, 91054, Erlangen, Germany. bernd.rautenstrauss@humgenet.uni-erlangen.de
authors.forename: Bernd
authors.initials: B
authors.lastname: Rautenstrauss
authors.forename: Kathrin
authors.initials: K
authors.lastname: Huehne
mesh_terms: D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA