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Article

Cystinuria and other noncalcareous calculi.

Endocrinology and metabolism clinics of North America - 1 Dec 2002

Shekarriz Bijan, Stoller Marshall L

Abstract excerpt

Urinary stone disease is the only clinical presentation in patients with cystinuria. Two genes have been associated with type I (SLC3A1) and non-type I (SLC7A9) cystinuria and multiple mutations of these genes have been identified. The type I form is completely recessive while the non-type I form is incompletely recessive. Clinically, heterozygotes with type I mutations are silent while heterozygotes with...

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PMID: 12474640
DOI: 10.1016/s0889-8529(02)00054-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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