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Table 2 Summary of the mutation detection results for SLC3A1 and SLC7A9 in a cohort of 103 cystinuria patients

From: No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

  two mutations one mutation explaining cystinuriaa only one mutation no mutation
SLC3A1 39° 2 17 /
SLC7A9 11 16 / /
mixed 1 / / /
total 51 (49.5%) 18 (17.5%) 17 (16.5%) 17 (16.5%)
  1. aheterozygosity of the duplication of exons 5 to 9 in SLC3A1 and of SLC7A9 mutations without parallel occurrence of a second mutation has been reported to be sufficient to cause cystinuria; °including large HCS deletions