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Article

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

The Israel Medical Association journal : IMAJ - 1 Jul 2007

Lotan Danny, Yoskovitz Guy, Bisceglia Luigi, Gerad Liora, Reznik-Wolf Haike, Pras Elon

Abstract excerpt

BACKGROUND: Cystinuria is an autosomal recessive disease that is manifested by kidney stones and is caused by mutations in two genes: SLC3AI on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene. OBJECTIVES: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem...

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PMID: 17710781

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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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