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

Hum Mol Genet. 1995 Mar;4(3):493-5. doi: 10.1093/hmg/4.3.493.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase

Associated data

  • GENBANK/S77773