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Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme composed of biotin-containing α (MCCA) and smaller β (MCCB) subunits encoded by MCCA and MCCB, respectively. We report studies of the c.1054G→A mutati...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Biochemistry and Molecular Biology
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2781441/ https://ncbi.nlm.nih.gov/pubmed/19706617 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.050674 |
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