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A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body. Major manifestations involve the central nerve system (CNS), skeletal deformation, and visceral manifestations. About 30% of M...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185571/ https://www.ncbi.nlm.nih.gov/pubmed/37188686 http://dx.doi.org/10.1038/s41598-023-34541-w |