(Q61763883)
Statements
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 (English)
N Gregersen
V S Winter
M J Corydon
T J Corydon
P Rinaldo
A Ribes
G Martinez
M J Bennett
C Vianey-Saban
A Bhala
D E Hale
W Lehnert
S Kmoch
M Roig
E Riudor
H Eiberg
L A Bolund