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Article

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

BMC research notes - 6 Nov 2019

Hettiarachchi D, Dissanayake V H W

Abstract excerpt

OBJECTIVE: To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown. RESULTS: Twenty patients from eighteen Sri Lankan families were screened for ARSA gene mutations. We found 13 different genetic variants of these three were novel. The three novel variants were p.Asp281Asn,...

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Identifiers

PMID: 31694723
DOI: 10.1186/s13104-019-4773-3
PMCID: PMC6836390

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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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