Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene

@article{Danpure1994MolecularCA,
  title={Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene},
  author={Christopher J. Danpure and Graeme M Birdsey and Gillian Rumsby and Michael J. Lumb and P. Edward Purdue and Jennifer Allsop},
  journal={Human Genetics},
  year={1994},
  volume={94},
  pages={55-64}
}
The autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). This paper concerns the identification, characterization and clinical use of an unusual discretely polymorphic tandem repeat sequence in the fourth intron of the human AGT gene (gene locus designation AGXT). In a random Caucasian population, three alleles could be clearly recognized that consisted of either 12 (type III… CONTINUE READING