Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

doi:10.1089/dna.1993.12.493

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Article

Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

DNA and cell biology - 1 Jan 2000

Hasegawa Y, Kawame H, Eto Y

Abstract excerpt

To understand the molecular basis of metachromatic leukodystrophy (MLD) in Japanese patients, we analyzed the presence of three known mutant arylsulfatase A (ASA) alleles in 9 Japanese patients with MLD. Two of these mutant alleles (designated 609A and 2381T) were reported to be relatively freque...

Topics

Alleles
Base Sequence
Cerebroside-Sulfatase
Gene Frequency
Humans
Japan
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Point Mutation

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