Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

@article{Rumsby2004EvaluationOM,
  title={Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.},
  author={Gill Rumsby and Emma L. Williams and Marion B. Coulter-Mackie},
  journal={Kidney international},
  year={2004},
  volume={66 3},
  pages={959-63}
}
BACKGROUND A definitive diagnosis of primary hyperoxaluria type 1 (PH1) and primary hyperoxaluria type 2 (PH2) requires the measurement of alanine:glyoxylate aminotransferase (AGT) and glyoxylate reductase (GR) activities, respectively, in a liver biopsy. We have evaluated a molecular genetic approach for the diagnosis of these autosomal-recessive diseases. METHODS Polymerase chain reaction (PCR) was used to detect three common mutations in the AGXT gene (c.33_34insC, c.508G>A, and c.731T>C… CONTINUE READING

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