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Article

Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.

Kidney international - 1 Mar 2010

Hoppe Bernd

Abstract excerpt

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 essen...

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Source

Identifiers

PMID: 20150937
DOI: 10.1038/ki.2009.471

Genes

AGXT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20150937-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.PMID 20150937Read ↗

Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?Semantic proximity Read ↗

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Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.Semantic proximity Read ↗

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.Semantic proximity Read ↗

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.Semantic proximity Read ↗

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.Semantic proximity Read ↗

Novel AGXT gene mutation in a Sri Lankan family with primary Hyperoxaluria type 1.Semantic proximity Read ↗

Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.Semantic proximity Read ↗

Primary hyperoxaluria: genotype-phenotype correlation.Semantic proximity Read ↗

Genetic assessment in primary hyperoxaluria: why it matters.Semantic proximity Read ↗

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Semantic proximity Read ↗

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