A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
Greenberg
C R
CR
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Reimer
D
D
Singal
R
R
Triggs-Raine
B
B
Chudley
A E
AE
Dilling
L A
LA
Philipps
S
S
Haworth
J C
JC
Seargeant
L E
LE
Goodman
S I
SI
D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009864:Ontario; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012326:RNA Splicing; D017422:Sequence Analysis, DNA
D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase