| 1 | AGXT, PHXL1
|
| Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
|
| Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.
|
| Hum Mutat 30(6):910-7. Review. 2009
|
| 2 | PHXL1
|
| In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
|
| Hopper ED, Pittman AM, Fitzgerald MC, Tucker CL.
|
| J Biol Chem 283(45):30493-502. Epub 2008 Sep 9. 2008
|
| 3 | AGXT, PHXL1
|
| Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
|
| Coulter-Mackie MB, Lian Q.
|
| Mol Genet Metab 89(4):349-59. Epub 2006 Sep 12. 2006
|
| 4 | PHXL1
|
| Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
|
| Danpure CJ.
|
| Am J Nephrol 25(3):303-10. Epub 2005 Jun 15. Review. 2005
|
| 5 | AGXT, PHXL1
|
| Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
|
| Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW.
|
| J Nephrol 17(3):436-40. 2004
|
| 6 | AGXT, PHXL1
|
| Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
|
| Pirulli D, et al.
|
| Hum Genet 104(6):523-5. 1999
|
| 7 | AGXT, PHXL1
|
| Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
|
| von Schnakenburg C, Rumsby G.
|
| J Med Genet 34(6):489-92. 1997
|
| 8 | AGXT, PHXL1
|
| Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1.
|
| von Schnakenburg C, Weir T, Rumsby G.
|
| Ann Hum Genet 61(Pt 4):365-8. 1997
|
| 9 | AGXT, PHXL1
|
| Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
|
| Tarn AC, von Schnakenburg C, Rumsby G.
|
| J Inherit Metab Dis 20(5):689-96. 1997
|
| 10 | AGXT, PHXL1
|
| Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
|
| Danpure CJ, Jennings PR.
|
| FEBS Lett 201(1):20-4. 1986
|