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Article

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

Kidney international - 1 Sept 2006

Beck B B, Hoppe B

Abstract excerpt

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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Source

Identifiers

PMID: 16957746
DOI: 10.1038/sj.ki.5001797

Genes

AGXT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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