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...

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Detalles Bibliográficos
Autores principales: Guo, Liyuan, Jin, Bo, Zhang, Yidan, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
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

Internet

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

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