Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: One of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria
Niels Gregersen, Vibeke S. Winter, Morten J. Corydon, Thomas J. Corydon, Piero Rinaldo, Antonia Ribes, Gemma Martinez, Michael J. Bennett, Christine Vianey-Saban, Ajay Bhala, Daniel E. Hale, Willy Lehnert, Stanislav Kmoch, Manel Roig, Encamaclo Riudor, Hans Eiberg, Brage S. Andresen, Peter Bross, Lars A. Bolund, Steen Kølvraa
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