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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izdano v:	Proc Natl Acad Sci U S A
Principais autores:	Kelly, D P, Whelan, A J, Ogden, M L, Alpers, R, Zhang, Z F, Bellus, G, Gregersen, N, Dorland, L, Strauss, A W
Format:	Artigo
Jezik:	Inglês
Izdano:	National Academy of Sciences 1990
Teme:	Research Article
Online dostop:	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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