Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
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DOI: 10.1186/s13104-019-4773-3
Abstract: ObjectiveTo 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.ResultsTwenty patients from eighteen Sri… read more here.
Keywords: sri lankan; patients metachromatic; metachromatic leukodystrophy; three novel ... See more keywords