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Kidney Int. 2006 Sep;70(6):984-6.

Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

Author information

1
Division of Pediatric Nephrology, University Children's Hospital, Cologne, Germany. Bernd.Hoppe@uk-koeln.de

Abstract

There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.

PMID:
16957746
DOI:
10.1038/sj.ki.5001797
[Indexed for MEDLINE]
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