Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.
Level V
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- Record sourced from PubMed, PMID 20150937.
- Also identified by DOI 10.1038/ki.2009.471.
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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.
Medical subject headings
- Genotype
- Hyperoxaluria, Primary
- Phenotype