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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer US
2019
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| 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 |