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Article

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.

Human genetics - 1 Apr 1994

Hasegawa Y, Kawame H, Ida H, Ohashi T, Eto Y

Abstract excerpt

The arylsulfatase A gene of a Japanese patient who has the juvenile form of metachromatic leukodystrophy, and who has been previously reported as a heterozygote of the 1070A mutation, was investigated. Nucleotide sequence analysis revealed the presence of a previously unreported C-to-T substitution (designated 2330T), 22 nucleotides downstream from the exon 8 splice acceptor site. Although the 2330T mutation...

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PMID: 7909527
DOI: 10.1007/BF00201666

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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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Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.PMID 7909527Read ↗

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