Article
[From gene to disease; SLC3A1, SLC7A9 and cystinuria].
Nederlands tijdschrift voor geneeskunde - 8 Feb 2003
Breuning M H, Hamdy N A T C
Abstract excerpt
In total, 1-2% of adults and 6-8% of children suffering from kidney stones have cystinuria, a defect in the transport of amino acids, which leads to high concentrations of cystine in the urine. Two genes have been implicated, solute carrier family 3 (cystine, basic and) neutral amino acid transporter, member 1 (SLC3A1) coding for the protein related to the system bo,+ amino-acid transporter, and solute carrier...
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