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

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Published:31st Aug 2006
Author: Beck BB, Hoppe B.
Availability: Free full text
Ref.:Kidney Int. 2006 Sep;70(6):984-6.
DOI:10.1038/sj.ki.5001797
Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?


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.


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