Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
Bissar-Tadmouri
N
N
Bogazici University, Department of Molecular Biology and Genetics, Istanbul University Medical School, Turkey.
Gulsen-Parman
Y
Y
Latour
P
P
Deymeer
F
F
Serdaroglu
P
P
Vandenberghe
A
A
Battaloglu
E
E
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
D018993:Myelin P0 Protein