title: T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.
authors.affiliation: Institute of Human Genetics, Erlangen, Germany.
authors.forename: A B
authors.initials: AB
authors.lastname: Ekici
authors.forename: O
authors.initials: O
authors.lastname: Park
authors.forename: R
authors.initials: R
authors.lastname: Korinthenberg
authors.forename: H
authors.initials: H
authors.lastname: Grehl
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D003596:Cytosine; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D009185:Myelin Proteins / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013941:Thymine
chemical_list: D003062:Codon; D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine; D003596:Cytosine; D011392:Proline; D013941:Thymine