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Article

[SLC7A9 gene variation: impact of 13 frequent mutations in the etiology of cystinuria in a Spanish Mediterranean population].

Medicina clinica - 1 Jul 2006

Francés Francesc, Portolés Olga, Corella Dolores, Sorlí José V, Sabater Antonio, Carrasco Paula, Guillén Marisa

Abstract excerpt

BACKGROUND AND OBJECTIVE: The aim of this study was to investigate the presence of the most prevalent mutation in the SLC7A9 gene in families of the Mediterranean Spanish population and their association with clinical phenotypes. PATIENTS AND METHOD: Twenty cystinuria families were studied (6 type I, 12 non type I, and 2 unknown type), including 48 cystinuria patients and 44 relatives. DNA was isolated and...

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PMID: 16834950
DOI: 10.1157/13090704

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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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