Article
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 1995
Rumsby G, Mandel H, Avey C, Geraerts A
Abstract excerpt
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic alanine:glyoxylate aminotransferase enzyme encoded by the AGXT gene on chromosome 2. Prenatal diagnosis of PH1 either by measurement of hepatic enzyme activity or DNA analysis provides a valuable contribution to the management of pregnancies at risk for the severe infantile form of this disease. DNA analysis is preferred because it can be...
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