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  • Title: Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.
    Author: Hoppe B.
    Journal: Kidney Int; 2010 Mar; 77(5):383-5. PubMed ID: 20150937.
    Abstract:
    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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