Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]

Hum Mutat. 1999 Nov;14(5):449. doi: 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H.

Authors

N Bissar-Tadmouri¹, Y Gulsen-Parman, P Latour, F Deymeer, P Serdaroglu, A Vandenberghe, E Battaloglu

Affiliation

¹ Bogazici University, Department of Molecular Biology and Genetics, Istanbul University Medical School, Turkey.

PMID: 10533074
DOI: 10.1002/(SICI)1098-1004(199911)14:5<449::AID-HUMU17>3.0.CO;2-H

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Sequence
Amino Acid Substitution
Base Sequence
Charcot-Marie-Tooth Disease / genetics*
Chromosome Deletion
Chromosomes, Human, Pair 1
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutagenesis, Insertional
Mutation, Missense
Myelin P0 Protein / genetics*
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
Turkey

Substances

Myelin P0 Protein

Associated data

GENBANK/D14584