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Article

Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

Human genetics - 1 Mar 2000

Guillén M, Corella D, Cabello M L, García A M, Portolés O, Hernández-Yago J

Abstract excerpt

Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids. Formation of renal calculi, recurrent infections and renal failure are the main complications of this disease. The SLC3A1 gene, which codes for a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. We investigated the possible association between...

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PMID: 10798361
DOI: 10.1007/s004390051044

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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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