Article
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
Molecular genetics and metabolism - 1 May 2004
Coulter-Mackie Marion B, Applegarth Derek, Toone Jennifer R, Henderson Howard
Abstract excerpt
We describe 7 novel mutations occurring on the major allele of the human AGT gene in patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44). These mutations include 3 small deletions, 570delG, 744delC, and 983_988del, two splice junction mutations, IVS7-1G-->C and IVS8+1G-->T, and...
Topics
- Adult
- Alleles
- Child
- Child, Preschool
- Humans
- Hyperoxaluria, Primary
- Infant
- Liver
- Middle Aged
- Mutation
- Sequence Analysis, DNA
- Syndrome
- Transaminases