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1. 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.

Author

Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, and Goodman SI

Subjects
Amino Acid Sequence, Asian People, Base Sequence, Glutaryl-CoA Dehydrogenase, Humans, Molecular Sequence Data, Ontario, RNA Splicing, Sequence Analysis, DNA, Mutation, Oxidoreductases deficiency, Oxidoreductases genetics, Oxidoreductases Acting on CH-CH Group Donors
Published
1995
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