Article
Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
Genetic testing - 1 Sept 2008
Di Perna Michele, Louizou Eirini, Fischetti Lucia, Dedoussis George V Z, Stanziale Pietro, Michelakakis Helen, Zelante Leopoldo, Pras Elon, Bisceglia Luigi
Abstract excerpt
Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria (OMIM 220100), an autosomal recessive disorder of amino acid transport and reabsorption in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. In an attempt to characterize the molecular defect in the SLC3A1 and SLC7A9 genes, we analyzed a cohort of 85 unrelated subjects clinically diagnosed as affected by cystinuria on the...
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