Article
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
Kidney international - 1 Jan 2006
Yuen Y-P, Lam C-W, Lai C-K, Tong S-F, Li P-S, Tam S, Kwan E Y-W, Chan S-Y, Tsang W-K, Chan K-Y, Mak W-L, Cheng C-W, Chan Y-W
Abstract excerpt
Cystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. It is caused by the defective transport of cystine and dibasic amino acids in the proximal renal tubules and intestinal epithelium. Two genes responsible for this, SLC3A1 and SLC7A9, are known. Patients with two SLC3A1 mutations are classified as type A cystinuria, whereas patients with two SLC7A9 mutations are classified as...
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