Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Similar presentations


Presentation on theme: "Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias1  Gill Rumsby, Emma Williams, Marion Coulter-Mackie "— Presentation transcript:

1 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 (September 2004) DOI: /j x Copyright © 2004 International Society of Nephrology Terms and Conditions

2 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  , DOI: ( /j x) Copyright © 2004 International Society of Nephrology Terms and Conditions

3 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  , DOI: ( /j x) Copyright © 2004 International Society of Nephrology Terms and Conditions


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

Similar presentations


Ads by Google