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Article

Genomic and functional investigations of mutations of the SLC3A1 gene in cystinuria.

Urologia internationalis - 1 Jan 2002

Lahme Sven, Bichler Karl-Horst, Eggermann Thomas, Lang Florian

Abstract excerpt

BACKGROUND: Cystinuria is the second most frequent autosomal recessively inherited disorder in Europe, and it is based on a disturbance of the transepithelial transport of cystine and amino acids in the proximal renal tubule as well as in the intestinum. From the point of view of the urologist, p...

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PMID: 12372889
DOI: 10.1159/000063940

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12372889-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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