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Article

Digenic Inheritance in Cystinuria Mouse Model.

PloS one - 1 Jan 2015

Espino Meritxell, Font-Llitjós Mariona, Vilches Clara, Salido Eduardo, Prat Esther, López de Heredia Miguel, Palacín Manuel, Nunes Virginia

Abstract excerpt

Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation...

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Identifiers

PMID: 26359869
DOI: 10.1371/journal.pone.0137277
PMCID: PMC4567282

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26359869-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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