Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

@article{Hopp2015PhenotypeGenotypeCA,
  title={Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.},
  author={Katharina Hopp and Andrea G. Cogal and Eric J. Bergstralh and Barbara M Seide and Julie B Olson and Alicia M Meek and John Charles Lieske and Dawn S. Milliner and Peter C. Harris},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2015},
  volume={26 10},
  pages={2559-70}
}
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly… CONTINUE READING