Article
New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
Biochemistry and molecular biology international - 1 Sept 1993
Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K
Abstract excerpt
P0, the major structural protein of peripheral myelin, is a homophilic adhesion molecule with a single immunoglobulin (Ig) domain, which contains a single N-linked glycosylation site and two cysteines. We have previously reported four different mutations of the myelin P0 gene in four families of...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Cell Adhesion Molecules, Neuronal
- Charcot-Marie-Tooth Disease
- Female
- Humans
- Molecular Sequence Data
- Mutation
- Myelin P0 Protein
- Myelin Proteins
- Polymerase Chain Reaction