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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Detalhes bibliográficos
Main Authors: Kelly, D P, Whelan, A J, Ogden, M L, Alpers, R, Zhang, Z F, Bellus, G, Gregersen, N, Dorland, L, Strauss, A W
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC55139/
https://ncbi.nlm.nih.gov/pubmed/2251268
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