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Article

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

American journal of medical genetics - 28 Nov 1997

Coulter-Mackie M, Gagnier L

Abstract excerpt

Linkage disequilibrium exists between metachromatic leukodystrophy (MLD) and pseudodeficiency mutations and selected polymorphisms within the arylsulfatase A gene. We have identified 2 new polymorphic NlaIII sites, NlaIII1 and NlaIII2, in the gene that, when used in combination with the known BsrI and BamHI polymorphisms, extends the haplotype associations of the pseudodeficiency and the most common infantile...

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Share to Deoxyribonucleases, Type II Site-Specific

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Source

Identifiers

PMID: 9375919
DOI: 10.1002/(sici)1096-8628(19971128)73:1<32::aid-ajmg7>3.0.co;2-r

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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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Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.PMID 9375919Read ↗

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