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Article

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.

Urological research - 1 Nov 2005

Rumsby Gill

Abstract excerpt

The aim of this paper is to give an overview of our current state of knowledge with respect to genotyping for the primary hyperoxalurias and the role of molecular genetics alongside the more traditional biochemical and enzymatic tests for the diagnosis and prognosis of these disorders. The published literature was reviewed to establish the frequency of different mutations and thus the value of testing for a...

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Identifiers

PMID: 16208537
DOI: 10.1007/s00240-005-0494-2

Genes

AGXT
GRHPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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