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

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 mutatio...

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Detalles Bibliográficos
Autores principales:	Hettiarachchi, D., Dissanayake, V. H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836390/ https://www.ncbi.nlm.nih.gov/pubmed/31694723 http://dx.doi.org/10.1186/s13104-019-4773-3

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