Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.

doi:10.1007/s004390050602

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Article

Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.

Human genetics - 1 Dec 1997

Ott R, Waye J S, Chang P L

Abstract excerpt

Deficient arylsulfatase A activity causes the neurodegenerative disease metachromatic leukodystrophy. However, some individuals with deficient enzyme activity appear clinically normal. This "pseudodeficiency" allele commonly found among many reported populations (frequency approximately 0.10) is...

Topics

Canada
Cerebroside-Sulfatase
Evolution, Molecular
Gene Frequency
Genetic Linkage
Glycosylation
Haplotypes
Humans
Leukodystrophy, Metachromatic
Mutation
Poly A
Polymorphism, Restriction Fragment Length
Protein Processing, Post-Translational
RNA Processing, Post-Transcriptional
Racial Groups

Source

Open in PubMed

Identifiers

PMID: 9402957
DOI: 10.1007/s004390050602

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9402957-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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