title: Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
authors.affiliation: Bogazici University, Department of Molecular Biology and Genetics, Istanbul University Medical School, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Bissar-Tadmouri
authors.forename: Y
authors.initials: Y
authors.lastname: Gulsen-Parman
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: F
authors.initials: F
authors.lastname: Deymeer
authors.forename: P
authors.initials: P
authors.lastname: Serdaroglu
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
authors.forename: E
authors.initials: E
authors.lastname: Battaloglu
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D018993:Myelin P0 Protein