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

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

Abstract 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...

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Bibliographic Details
Main Authors: D. Hettiarachchi, V. H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Research Notes
Subjects:
Metachromatic leukodystrophy
ARSA
Neurodegenerative disorders
Online Access:http://link.springer.com/article/10.1186/s13104-019-4773-3

Internet

http://link.springer.com/article/10.1186/s13104-019-4773-3

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