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Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency
Methylmalonyl‐CoA mutase (MUT) is an essential enzyme in propionate catabolism that requires adenosylcobalamin as a cofactor. Almost 250 inherited mutations in the MUT gene are known to cause the devastating disorder methylmalonic aciduria; however, the mechanism of dysfunction of these mutations, m...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441004/ https://www.ncbi.nlm.nih.gov/pubmed/25125334 http://dx.doi.org/10.1002/humu.22633 |