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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

1995; Oxford University Press; Volume: 4; Issue: 3 Linguagem: Inglês

10.1093/hmg/4.3.493

1460-2083

Cheryl R. Greenberg, David Reimer, Rupinder Singal, Barbara L. Triggs‐Raine, Albert E. Chudley, Louise A. Dilling, Sylvia Philipps, James C. Haworth, Lorne E. Seargeant, Stephen I. Goodman,

Genomics and Rare Diseases

Journal Article 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 Get access Cheryl R. Greenberg, Cheryl R. Greenberg * 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA2Department of Human Genetics, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3 *To whom correspondence should be addressed at: Section of Genetics and Metabolism, Children's Hospital, 840 Sherbrook Street, Winnipeg, Manitoba R3A ISI, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar David Reimer, David Reimer 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA2Department of Human Genetics, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3 Search for other works by this author on: Oxford Academic PubMed Google Scholar Rupinder Singal, Rupinder Singal 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Barbara Triggs-Raine, Barbara Triggs-Raine 3Department of Biochemistry and Molecular BiologyUniversity of Manitoba, Winnipeg, Manitoba, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Albert E. Chudley, Albert E. Chudley 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA2Department of Human Genetics, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3 Search for other works by this author on: Oxford Academic PubMed Google Scholar Louise A. Dilling, Louise A. Dilling 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Sylvia Philipps, Sylvia Philipps 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar James C. Haworth, James C. Haworth 1Department of Pediatrics and Child Health, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3, USA2Department of Human Genetics, University of Manitoba250–770 Bannatyne Avenue, Winnipeg, Manitoba R3E OW3 Search for other works by this author on: Oxford Academic PubMed Google Scholar Lorne E. Seargeant, Lorne E. Seargeant 3Department of Biochemistry and Molecular BiologyUniversity of Manitoba, Winnipeg, Manitoba, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Stephen I. Goodman Stephen I. Goodman 4Department of Pediatrics, University of Colorado School of MedicineDenver, CO, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 3, March 1995, Pages 493–495, https://doi.org/10.1093/hmg/4.3.493 Published: 01 March 1995 Article history Received: 17 October 1994 Revision received: 14 December 1994 Accepted: 14 December 1994 Published: 01 March 1995