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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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Bibliografski detalji
Izdano u:BMC Res Notes
Glavni autori: Hettiarachchi, D., Dissanayake, V. H. W.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6836390/
https://ncbi.nlm.nih.gov/pubmed/31694723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-019-4773-3
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