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Article

SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.

Biochemical genetics - 1 Apr 2015

Coulter-Mackie Marion B

Abstract excerpt

Primary hyperoxaluria type 1 (PH1) is a rare genetic kidney disease caused by a deficiency of alanine:glyoxylate aminotransferase (AGT). Genetic heterogeneity of the AGT gene cannot fully account for heterogeneity in the clinical phenotype. This study investigates a possible contribution to the clinical phenotype from SNPs in RET or PAX2 genes associated with reduced nephron number. The frequencies of these SNPs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25854853
DOI: 10.1007/s10528-015-9667-z

Genes

PAX2
RET
AGT

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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