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Article

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Human mutation - 1 Jan 1994

Kappler J, Sommerlade H J, von Figura K, Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound heterozygote of two alleles carrying two deleterious mutation each. One allele bears a splice donor site mutation together with two polymorphisms and an...

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Identifiers

PMID: 7981715
DOI: 10.1002/humu.1380040205

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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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