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Article

Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.

The Journal of clinical endocrinology and metabolism - 1 Oct 1998

Gitomer W L, Reed B Y, Ruml L A, Sakhaee K, Pak C Y

Abstract excerpt

Cystinuria is an inherited transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. We have studied the occurrence of mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter-like protein, in 33 unrelated cystinurics. We found mutations in 34 of the 66 chromosomes studied. There were 14 different mutations in our study population, 8 of which...

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PMID: 9768685
DOI: 10.1210/jcem.83.10.5220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.PMID 9768685Read ↗

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