Olsen, RK; Br๘ner, S; Sabaratnam, R; Doktor, TK; Andersen, HS; Bruun, GH; Gahrn, B; Stenbroen, V; Olpin, SE; Dobbie, A; Gregersen, N; Andresen, BS
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. (2014), Hum Mutat, 35, 86-95.