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Mucopolysaccharidosis Type VI in a Great Dane Dog Caused by a Nonsense Mutation in the ARSB Gene
Mucopolysaccharidoses (MPS) are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans (GAG). Lysosomal GAG accumulation results in cell and organ dysfunction. This study characterizes the phenotype and genotype of MPS VI in...
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| Publicado no: | Vet Pathol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7879606/ https://ncbi.nlm.nih.gov/pubmed/29157190 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300985817732115 |
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