Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
Abstract Background Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal disorder caused by mutations in ARSA. The biological processes of MLD disease caused by candidate pathogenic mutations in the ARSA gene remain unclear. Methods We used whole‐exome sequencing (WES) and Sanger sequenc...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-11-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Online Access: | https://doi.org/10.1002/mgg3.1478 |