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

Rikke Katrine Jentoft Olsen, Sabrina Brøner, Rugivan Sabaratnam, Thomas K Doktor, Henriette S Andersen, Gitte H Bruun, Birthe Gahrn, Vibeke Stenbroen, Simon E Olpin, Angus Dobbie, Niels Gregersen, Brage Storstein Andresen

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Biochemistry, Genetics and Molecular Biology