Article
Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.
Clinical nephrology - 1 Apr 2006
Brauers E, Schmidt C, Zerres K, Eggermann T
Abstract excerpt
Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. While mutations in the SLC3-A1 gene cause type I cystinuria, patients with non-type I cystinuria mostly carry mutations in the SLC7A9 gene. However, there is evidence that further genetic factors cause and influence the cystinuria...
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