Article
The molecular basis of cystinuria.
Nephron. Experimental nephrology - 1 Jan 2004
Goodyer P
Abstract excerpt
Cystinuria is an inherited form of nephrolithiasis due to failure of reabsorptive transport in the proximal tubule. Patients with classical recessive cystinuria have inherited two mutations of the SLC3A1 gene, encoding a subunit of the transport mechanism. Patients with the dominant form of cysti...
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