Article
A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.
Human molecular genetics - 1 Dec 1993
Kurosawa K, Iwaki A, Miyake S, Imaizumi K, Kuroki Y, Fukumaki Y
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked neurological disorder characterized by dysmyelination in the central nervous system (CNS). Recently mutations of the myelin proteolipid protein (PLP) gene which encodes both PLP and its isoform, DM-20 generated by alternative splicing, have been d...
Topics
- Adolescent
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA Primers
- DNA Transposable Elements
- Diffuse Cerebral Sclerosis of Schilder
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteins
- Myelin Proteolipid Protein
- Polymerase Chain Reaction
- Reference Values