Citations for
1AGXT, 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
2PHXL1
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
3AGXT, 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
4PHXL1
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
5AGXT, 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
6AGXT, 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
7AGXT, 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
8AGXT, 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
9AGXT, 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
10AGXT, PHXL1
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Danpure CJ, Jennings PR.
FEBS Lett 201(1):20-4. 1986