A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

Mucopolysaccharidosis type IIIA (MPS-IIIA, Sanfilippo syndrome) is a Lysosomal Storage Disease caused by cellular deficiency of N-sulfoglucosamine sulfohydrolase (SGSH). Given the large heterogeneity of genetic mutations responsible for the disease, a comprehensive understanding of the mechanisms by...

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Detalles Bibliográficos
Publicado en:PLoS One
Autores principales: Ugrinov, Krastyu G., Freed, Stefan D., Thomas, Clayton L., Lee, Shaun W.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4373678/
https://ncbi.nlm.nih.gov/pubmed/25807448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0121511
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