Article

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.

Human molecular genetics - 1 Apr 1998

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