Article
Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Human mutation - 1 Jan 1994
Pastor-Soler N M, Rafi M A, Hoffman J D, Hu D, Wenger D A
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme arylsulfatase A (ARSA). Unmetaboli...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Cerebroside-Sulfatase
- Child
- Consensus Sequence
- DNA, Complementary
- Exons
- Female
- Humans
- Indians, North American
- Infant
- Introns
- Leukodystrophy, Metachromatic
- Male
- Molecular Sequence Data
- Mutation
- Pedigree