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Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
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 sequencing to...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667344/ https://www.ncbi.nlm.nih.gov/pubmed/32875726 http://dx.doi.org/10.1002/mgg3.1478 |