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Generation of a novel disease model mouse for mucopolysaccharidosis type VI via c. 252T>C human ARSB mutation knock-in
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a mutation in the ARSB gene, which encodes arylsulfatase B (ARSB), and is characterized by glycosaminoglycan accumulation. Some pathogenic mutations have been identified in or near the substrate-binding poc...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399948/ https://www.ncbi.nlm.nih.gov/pubmed/36032399 http://dx.doi.org/10.1016/j.bbrep.2022.101321 |