Article
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
American journal of human genetics - 1 Jan 1995
Heinisch U, Zlotogora J, Kafert S, Gieselmann V
Abstract excerpt
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000. Metachromatic leukodystrophy was found to be more frequent among Arabs living in two restricted areas in Israel. Ten...
Topics
- Age of Onset
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cerebroside-Sulfatase
- Child, Preschool
- Cluster Analysis
- Consanguinity
- DNA, Complementary
- Ethnicity
- Gene Frequency
- Genes
- Humans
- Infant
- Israel
- Leukodystrophy, Metachromatic
- Molecular Sequence Data
- Mutation