The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Christina Bak Pedersen, Steen Kølvrå, Agnete Kølvraa, Vibeke Stenbroen, Margrethe Kjeldsen, Regina Ensenauer, Ingrid Tein, Dietrich Matern, Piero Rinaldo, Christine Vianey-Saban, Antonia Ribes, Willy Lehnert, Ernst Christensen, Thomas J Corydon, Brage S Andresen, Søren Vang, Lars Bolund, Jerry Vockley, Peter Bross, Niels Gregersen

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Biochemistry, Genetics and Molecular Biology