N. Gregersen
Research Unit for Molecular Medicine
Faculty of Health Sciences and Aarhus University Hospital
Skejby Sygehus
8200 Aarhus N
Denmark
Name/email consistency: medium
- 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. Gregersen, N., Winter, V.S., Corydon, M.J., Corydon, T.J., Rinaldo, P., Ribes, A., Martinez, G., Bennett, M.J., Vianey-Saban, C., Bhala, A., Hale, D.E., Lehnert, W., Kmoch, S., Roig, M., Riudor, E., Eiberg, H., Andresen, B.S., Bross, P., Bolund, L.A., Kølvraa, S. Hum. Mol. Genet. (1998)