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

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Abstract
Cheryl R. Greenberg, David Reimer, Rupinder Singal, Barbara Triggs-Raine, Albert E. Chudley, Louise A. Dilling, Sylvia Philipps, James C. Haworth, Lorne E. Sear