We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.
- Authors
Hoppe, Bernd
- 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.
- Publication
Kidney international, 2010, Vol 77, Issue 5, p383
- ISSN
1523-1755
- Publication type
Journal Article
- DOI
10.1038/ki.2009.471