Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination. The profound impact of early diagnosis on MLD treatment options necessi...

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Detalles Bibliográficos
Autores principales: Ataei, Zahra, Nouri, Zahra, Tavakoli, Farial, Pourreza, Mohammad Reza, Narrei, Sina, Tabatabaiefar, Mohammad Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970088/
https://www.ncbi.nlm.nih.gov/pubmed/36848337
http://dx.doi.org/10.1371/journal.pone.0282304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9970088/
https://www.ncbi.nlm.nih.gov/pubmed/36848337
http://dx.doi.org/10.1371/journal.pone.0282304

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