Article
A new polymorphism of arylsulfatase A within the coding region.
Human genetics - 1 Sept 1996
Berger J, Gmach M, Faé I, Molzer B, Bernheimer H
Abstract excerpt
A 10-year-old boy with juvenile metachromatic leukodystrophy (MLD) presented with the 459 + 1G-->A arylsulfatase A (ASA) mutation on one allele. To detect his complete genotype, the other ASA allele was sequenced and a T-to-C transition at nucleotide 376 in exon 2 was identified. This missense mu...
Topics
- Alleles
- Base Sequence
- Cerebroside-Sulfatase
- Child
- DNA Primers
- Heterozygote
- Homozygote
- Humans
- Leukodystrophy, Metachromatic
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic