Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a common inherited defect in energy metabolism. Characterization of the mRNA encoding MCAD in a Dutch MCAD-deficient patient revealed an A----G change at nucleotide position 985 of the MCAD mRNA coding region. This point mutation results in...
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| Yayımlandı: | Proc Natl Acad Sci U S A |
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| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
National Academy of Sciences
1990
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC55139/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2251268/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.23.9236 |
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