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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies
Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). This study reports differences in the metabolic and disease outcomes of two pairs of siblings with MMA cblB type, respectively...
Tallennettuna:
| Julkaisussa: | Clin Genet |
|---|---|
| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4687481/ https://ncbi.nlm.nih.gov/pubmed/24813872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12426 |
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