Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

  title={Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.},
  author={Luca Dello Strologo and Elon Pras and Claudia Pontesilli and Ercole Beccia and Vittorino Ricci-Barbini and Luisa de Sanctis and Alberto Ponzone and Michele Gallucci and Luigi Bisceglia and Leopoldo Zelante and Maite Jim{\'e}nez-Vidal and Mariona Font and Antonio Zorzano and Ferran Rousaud and Virginia Nunes and Paolo Gasparini and Manuel Palac{\'i}n and Gianfranco Rizzoni},
  journal={Journal of the American Society of Nephrology : JASN},
  volume={13 10},
Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for all three types of the disease. The ICC set up a multinational database and collected genetic and clinical data from 224 patients affected by… CONTINUE READING
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