Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
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.

Author information

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

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.

Comment on

PMID:
20150937
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk