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Article

Population frequency of the arylsulphatase A pseudo-deficiency allele.

Human genetics - 1 May 1991

Nelson P V, Carey W F, Morris C P

Abstract excerpt

The enzymatic diagnosis of metachromatic leukodystrophy is complicated by the frequent occurrence of the pseudo-deficiency of arylsulphatase A (ASA) enzyme activity. An A to G nucleotide transition in the first polyadenylation signal of the ASA gene results in the loss of its major mRNA species and a greatly reduced level of enzyme activity. This nucleotide change (nucleotide 1620 of the ASA cDNA) is the cause of...

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PMID: 1674719
DOI: 10.1007/BF01213099

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Population frequency of the arylsulphatase A pseudo-deficiency allele.PMID 1674719Read ↗

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Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.Semantic proximity Read ↗

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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.Semantic proximity Read ↗

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

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

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