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Journal Abstract Search

183 related items for PubMed ID: 22201765

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  • 7. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C, Rumsby G.
    J Nephrol; 1998; 11 Suppl 1():15-7. PubMed ID: 9604803
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  • 8. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
    Danpure CJ.
    Am J Nephrol; 2005; 25(3):303-10. PubMed ID: 15961951
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  • 12. Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
    Dindo M, Oppici E, Dell'Orco D, Montone R, Cellini B.
    J Inherit Metab Dis; 2018 Mar; 41(2):263-275. PubMed ID: 29110180
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  • 13. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.
    Cellini B, Montioli R, Voltattorni CB.
    Biochim Biophys Acta; 2011 Nov; 1814(11):1577-84. PubMed ID: 21176891
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  • 14. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
    Danpure CJ, Purdue PE, Fryer P, Griffiths S, Allsop J, Lumb MJ, Guttridge KM, Jennings PR, Scheinman JI, Mauer SM.
    Am J Hum Genet; 1993 Aug; 53(2):417-32. PubMed ID: 8101040
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  • 15. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.
    Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D.
    Hum Mutat; 2000 Apr; 15(4):384-5. PubMed ID: 10737993
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  • 19. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
    von Schnakenburg C, Rumsby G.
    J Med Genet; 1997 Jun; 34(6):489-92. PubMed ID: 9192270
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  • 20. Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.
    Coulter-Mackie MB, Lian Q, Wong SG.
    Protein Expr Purif; 2005 May; 41(1):18-26. PubMed ID: 15802217
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