Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias1 Gill Rumsby, Emma Williams, Marion Coulter-Mackie

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Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias1 Gill Rumsby, Emma Williams, Marion Coulter-Mackie Kidney International Volume 66, Issue 3, Pages 959-963 (September 2004) DOI: 10.1111/j.1523-1755.2004.00842.x Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 1 Alanine:glyoxylate aminotransferse (AGT) catalytic and immunoreactivity in patients homozygous for the three common mutations c.33_34insC, c.508A, and c.731C. Activity is expressed as % mean normal to permit comparison between laboratories. Kidney International 2004 66, 959-963DOI: (10.1111/j.1523-1755.2004.00842.x) Copyright © 2004 International Society of Nephrology Terms and Conditions

Figure 2 Age of presentation for the c.33_34insC, c.508A, c.731C mutations in AGXT and for c.103delG in GRHPR. Information was available on 84 homozygotes. Kidney International 2004 66, 959-963DOI: (10.1111/j.1523-1755.2004.00842.x) Copyright © 2004 International Society of Nephrology Terms and Conditions