Article
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
American journal of medical genetics - 1 Jun 1992
Pratt V M, Trofatter J A, Larsen M B, Hodes M E, Dlouhy S R
Abstract excerpt
A C--greater than G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One-hundred-ten unrelated X chromosomes...
Topics
- Base Sequence
- DNA
- Diffuse Cerebral Sclerosis of Schilder
- Exons
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteins
- Myelin Proteolipid Protein