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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.

Human molecular genetics - 1 Mar 1995

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

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PMID: 7795610
DOI: 10.1093/hmg/4.3.493

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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