Article
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Human mutation - 1 Jan 1995
Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V
Abstract excerpt
Late infantile metachromatic leukodystrophy (MLD) is a neurodegenerative disease, most commonly caused by the deficiency of the lysosomal enzyme arylsulfatase A (ARSA). Late infantile MLD is frequent (1/75 live birth) in a small Jewish community which lived in Habban, isolated from the other Jewi...
Topics
- Alleles
- Base Sequence
- Cerebroside-Sulfatase
- Child
- Child, Preschool
- Family Health
- Female
- Founder Effect
- Homozygote
- Humans
- Jews
- Leukodystrophy, Metachromatic
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Analysis, DNA
- Yemen