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Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis
We describe a gain of function mutation in the skeletal muscle glycogen synthase gene that is responsible for a novel myopathy, and is highly prevalent in multiple breeds of horses because it arose before the founding of many modern breeds. Polysaccharide Storage Myopathy (PSSM) is a novel glycogeno...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2430182/ https://ncbi.nlm.nih.gov/pubmed/18358695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2008.01.011 |
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