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Article

The need for genetic study to diagnose some cases of distal renal tubular acidosis.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2000

Heras Benito Manuel, Garcia-Gonzalez Miguel A, Valdenebro Recio María, Molina Ordás Álvaro, Callejas Martínez Ramiro, Rodríguez Gómez María Astrid, Calle García Leonardo, Sousa Silva Lisbeth, Fernández-Reyes Luis María José

Abstract excerpt

We describe the case of a young woman who was diagnosed with advanced kidney disease, with an incidental finding of nephrocalcinosis of unknown aetiology, having been found asymptomatic throughout her life. The genetic study by panels of known genes associated with tubulointerstitial disease allowed us to discover autosomal dominant distal renal tubular acidosis associated with a de novo mutation in exon 14 of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27493007
DOI: 10.1016/j.nefro.2016.06.008

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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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