Article
Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.
Human genetics - 1 Jul 1994
Danpure C J, Birdsey G M, Rumsby G, Lumb M J, Purdue P E, Allsop J
Abstract excerpt
The autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate amino-transferase (AGT). This paper concerns the identification, characterization and clinical use of an unusual discretely polymorphic tandem r...
Topics
- Alanine Transaminase
- Alleles
- Base Sequence
- DNA
- Female
- Gene Frequency
- Humans
- Hyperoxaluria
- Introns
- Liver
- Male
- Molecular Sequence Data
- Pedigree
- Polymorphism, Genetic
- Prenatal Diagnosis
- Repetitive Sequences, Nucleic Acid
- Retrospective Studies
- Transaminases