Article
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
American journal of human genetics - 1 Mar 1995
Michaud J, Thompson G N, Brody L C, Steel G, Obie C, Fontaine G, Schappert K, Keith C G, Valle D, Mitchell G A
Abstract excerpt
We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination allele R398ter, showed a significant (P < .01) decrease in mean plasma ornithine levels, following pyridoxine supplementation with a constant protein intake: 826 +/-...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- CHO Cells
- Cells, Cultured
- Child
- Cricetinae
- Cricetulus
- Exons
- Female
- Fibroblasts