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Article

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.

Human genetics - 1 Feb 1995

Kafert S, Heinisch U, Zlotogora J, Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine. The patient was homozygous for this mutation. Studies on Ltk- cells stably expressing the mutant...

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Identifiers

PMID: 7860068
DOI: 10.1007/BF00209402

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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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A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.PMID 7860068Read ↗

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