Cystine nephrolithiasis

  title={Cystine nephrolithiasis},
  author={Hasan Fattah and Yasmin Hambaroush and David S. Goldfarb},
  booktitle={Translational andrology and urology},
Our understanding of the molecular basis of cystinuria has deepened as the result of the causative genes, SLC3A1 and SLC7A9, being identified. The proteins coded for by these genes form a heterodimer responsible for reabsorption of filtered cystine in the proximal tubule. Failure of this transport system to be targeted to the apical membrane, as in the case of SLC3A1 mutations, or failure of the transport system to function, as in the case of SLC7A9 mutations, leads to abnormal urinary… CONTINUE READING
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Analysis of 24-hour urine parameters as it relates to age of onset of 233 Translational Andrology and Urology, Vol 3, No 3 September 2014 © Translational Andrology and Urology

  • EH Lambert, JR Asplin, SD Herrell
  • All rights reserved. Transl Androl Urol
  • 2014
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