Article
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
Human genetics - 1 Aug 1991
Purdue P E, Lumb M J, Allsop J, Danpure C J
Abstract excerpt
We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type...
Topics
- Alanine Transaminase
- Base Sequence
- Heterozygote
- Humans
- Hyperoxaluria, Primary
- Introns
- Mitochondria
- Molecular Sequence Data
- Multigene Family
- Mutation
- Polymerase Chain Reaction
- Restriction Mapping
- Transaminases