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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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| Vydáno v: | Vet Pathol |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | 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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