TY  - GEN
AU  - Gregersen,N
AU  - Winter,V S
AU  - Corydon,M J
AU  - Corydon,T J
AU  - Rinaldo,P
AU  - Ribes,A
AU  - Martinez,G
AU  - Bennett,M J
AU  - Vianey-Saban,C
AU  - Bhala,A
AU  - Hale,D E
AU  - Lehnert,W
AU  - Kmoch,S
AU  - Roig,M
AU  - Riudor,E
AU  - Eiberg,H
AU  - Andresen,B S
AU  - Bross,P
AU  - Bolund,L A
AU  - Kølvraa,S
TI  - 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
SN  - 0964-6906
PY  - 1998///0512
KW  - Acyl-CoA Dehydrogenase
KW  - Acyl-CoA Dehydrogenases
KW  - deficiency
KW  - Alleles
KW  - Animals
KW  - Blotting, Western
KW  - COS Cells
KW  - Cells, Cultured
KW  - DNA, Complementary
KW  - analysis
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Frequency
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Malonates
KW  - urine
KW  - Mutation
KW  - Temperature
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/7.4.619
ER  -