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Kidney Int. 2010 Mar;77(5):383-5. doi: 10.1038/ki.2009.471.

Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.

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  • Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany. bernd.hoppe@uk-koeln.de


A genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations has supposedly been found, at least for sensitivity to medication and long-term outcome. Nevertheless, other determinants, such as environmental factors or modifier genes, must play an essential role in the intra- and interfamilial heterogeneity of this disease. Harambat and co-workers report on this situation, presenting data on a major population of genotyped patients.

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