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Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a t...
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| Veröffentlicht in: | Indian J Clin Biochem |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer India
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5538998/ https://ncbi.nlm.nih.gov/pubmed/28811685 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12291-016-0600-y |
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