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

doi:10.1210/jcem.83.10.5220

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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...

Topics

Adolescent
Adult
Aged
Amino Acid Transport Systems, Basic
Base Sequence
Carrier Proteins
Child
Child, Preschool
Cystinuria
DNA
DNA Transposable Elements
Female
Gene Deletion
Gene Frequency
Humans
Male
Membrane Glycoproteins
Middle Aged

Source

Open in PubMed

Identifiers

PMID: 9768685
DOI: 10.1210/jcem.83.10.5220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9768685-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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