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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 associated with two A-->G transitions in cis in the arylsulfatase A gene causing the simultaneous loss of an...

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Identifiers

PMID: 9402957
DOI: 10.1007/s004390050602

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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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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.PMID 9402957Read ↗

Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.Semantic proximity Read ↗

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.Semantic proximity Read ↗

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.Semantic proximity Read ↗

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.Semantic proximity Read ↗

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.Semantic proximity Read ↗

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Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.Semantic proximity Read ↗

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