| Phenotype: | Hyperoxaluria, primary, type 1 |
|---|---|
| Dna Change: | c.731T>C (734T>C) |
| Protein Change: | p.Ile244Thr |
| Mutation Type: | |
| Mutation Effect: | |
| Location: | Exon 7 |
| Transcript: | NM_000030.2 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | NA | 7 patients/9 patients | NA | Chemli J et al., 2007Chemli J, Abdennabi H, Zorgati M, Abdelhak S, Nabli N, Abroug S, Sfar MT, Ben Dhia N, Amri F, Harbi A, . [Primary hyperoxaluria in children in central Tunisia].. Tunis Med. 2007; 85(6):513-8 |
| Tunisia | NA | NA | 68% of patients | NA | Benhaj Mbarek I et al., 2011Benhaj Mbarek I, Abroug S, Omezzine A, Zellama D, Achour A, Harbi A, Bouslama A, . Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.. BMC Nephrol. 2011; 12(0):25 |
Benhaj Mbarek I, Abroug S, Omezzine A, Zellama D, Achour A, Harbi A, Bouslama A, Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.BMC Nephrol. 2011; 12(0):25
Chemli J, Abdennabi H, Zorgati M, Abdelhak S, Nabli N, Abroug S, Sfar MT, Ben Dhia N, Amri F, Harbi A, [Primary hyperoxaluria in children in central Tunisia].Tunis Med. 2007; 85(6):513-8