Article
Molecular genetics of metachromatic leukodystrophy.
Human mutation - 1 Jan 1994
Gieselmann V, Zlotogora J, Harris A, Wenger D A, Morris C P
Abstract excerpt
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glyco...
Topics
- Cerebroside-Sulfatase
- Chromosome Mapping
- DNA Mutational Analysis
- Genotype
- Humans
- Leukodystrophy, Metachromatic
- Molecular Sequence Data
- Mutation
- Phenotype