Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for...

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Detalles Bibliográficos
Autores principales: Tanwar, Himani, Kumar, D. Thirumal, Doss, C. George Priya, Zayed, Hatem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858298/
https://www.ncbi.nlm.nih.gov/pubmed/31385193
http://dx.doi.org/10.1007/s11011-019-00465-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858298/
https://www.ncbi.nlm.nih.gov/pubmed/31385193
http://dx.doi.org/10.1007/s11011-019-00465-6

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