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., Reimer, D., Singal, R., Triggs-Raine, B., Chudley, A., E., Dilling, L., A., Philipps, S., Haworth, J., C., Seargeant, L., E., & Goodman, S., I. Hum Mol Genet, 4(3):493-495, 1995. Website bibtex @article{
title = {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},
type = {article},
year = {1995},
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keywords = {*Mutation,*Oxidoreductases Acting on CH-CH Group Donors,Amino Acid Sequence,Asian Continental Ancestry Group,Base Sequence,Glutaryl-CoA Dehydrogenase,Humans,Molecular Sequence Data,Ontario,Oxidoreductases/*deficiency/*genetics,RNA Splicing,Sequence Analysis, DNA},
pages = {493-495},
volume = {4},
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notes = {<m:note>Greenberg, C R<m:linebreak/>Reimer, D<m:linebreak/>Singal, R<m:linebreak/>Triggs-Raine, B<m:linebreak/>Chudley, A E<m:linebreak/>Dilling, L A<m:linebreak/>Philipps, S<m:linebreak/>Haworth, J C<m:linebreak/>Seargeant, L E<m:linebreak/>Goodman, S I<m:linebreak/>Research Support, Non-U.S. Gov't<m:linebreak/>England<m:linebreak/>Human molecular genetics<m:linebreak/>Hum Mol Genet. 1995 Mar;4(3):493-5.</m:note>},
bibtype = {article},
author = {Greenberg, C R and Reimer, D and Singal, R and Triggs-Raine, B and Chudley, A E and Dilling, L A and Philipps, S and Haworth, J C and Seargeant, L E and Goodman, S I},
journal = {Hum Mol Genet},
number = {3}
}
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