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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 frequent in a sample of predominantly Caucasian MLD. The other allele, with a substitution of Gly-99 by Asp (allele 445A),...

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Identifiers

PMID: 8101083
DOI: 10.1089/dna.1993.12.493

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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