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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...

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Detalles Bibliográficos
Autores principales: Mashima, Ryuichi, Ohira, Mari, Okuyama, Torayuki, Onodera, Masafumi, Takada, Shuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
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

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