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7. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Rumsby G, Williams E, Coulter-Mackie M. Kidney Int; 2004 Sep; 66(3):959-63. PubMed ID: 15327387 [Abstract] [Full Text] [Related]
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12. Molecular insights into primary hyperoxaluria type 1 pathogenesis. Cellini B, Oppici E, Paiardini A, Montioli R. Front Biosci (Landmark Ed); 2012 Jan 01; 17(2):621-34. PubMed ID: 22201765 [Abstract] [Full Text] [Related]
13. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase. Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B. Biochim Biophys Acta; 2013 Dec 01; 1832(12):2277-88. PubMed ID: 24055001 [Abstract] [Full Text] [Related]
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