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Article

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.

American journal of human genetics - 1 Jun 2003

Gianfrancesco Fernando, Esposito Teresa, Ombra Maria Neve, Forabosco Paola, Maninchedda Giuseppe, Fattorini Mauro, Casula Stefania, Vaccargiu Simona, Casu Giuseppina, Cardia Francesco, Deiana Ivo, Melis Paola, Falchi Mario, Pirastu Mario

Abstract excerpt

Uric acid nephrolithiasis (UAN) is a common disease with an established genetic component that presents a complex mode of inheritance. While studying an ancient founder population in Talana, a village in Sardinia, we recently identified a susceptibility locus of approximately 2.5 cM for UAN on 10q21-q22 in a relatively small sample that was carefully selected through genealogical information. To refine the...

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PMID: 12740763
DOI: 10.1086/375628
PMCID: PMC1180308

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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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