A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the β-oxidation of fatty acids. Approximately 80% of patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985). The remaining patients (except for a few cases...

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Autores principales: Andresen, Brage Storstein, Bross, Peter, Jensen, Thomas G., Winter, Vibeke, Knudsen, Inga, Kølvraa, Steen, Jensen, Uffe Birk, Bolund, Lars, Duran, Marinus, Kim, Jung-Ja, Curtis, Diana, Divry, Priscille, Vianey-Saban, Christine, Gregersen, Niels
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682403/
https://ncbi.nlm.nih.gov/pubmed/8102510
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