Article
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Human mutation - 1 Jan 2014
Olsen Rikke K J, Brøner Sabrina, Sabaratnam Rugivan, Doktor Thomas K, Andersen Henriette S, Bruun Gitte H, Gahrn Birthe, Stenbroen Vibeke, Olpin Simon E, Dobbie Angus, Gregersen Niels, Andresen Brage S
Abstract excerpt
Multiple acyl-CoA dehydrogenation deficiency is a disorder of fatty acid and amino acid oxidation caused by defects of electron transfer flavoprotein (ETF) or its dehydrogenase (ETFDH). A clear relationship between genotype and phenotype makes genotyping of patients important not only diagnostically but also for prognosis and for assessment of treatment. In the present study, we show that a predicted benign ETFDH...
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