Article
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
Human mutation - 1 Jan 1993
Harvey J S, Nelson P V, Carey W F, Robertson E F, Morris C P
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulfatase A (ARSA; EC 3.1.6.8). The 8 ARSA exons and adjacent intron boundaries from a patient with late-infantile metachromatic leukodystrophy were polymerase chain reaction (PCR...
Topics
- Amino Acid Sequence
- Base Sequence
- Cerebroside-Sulfatase
- Child, Preschool
- DNA Primers
- Female
- Humans
- Infant
- Leukodystrophy, Metachromatic
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Sequence Homology, Amino Acid