Article
Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.
Genetic testing - 1 Jan 1999
Albers A, Lahme S, Wagner C, Kaiser P, Zerres K, Capasso G, Pica A, Palacin M, Lang F, Bichler K H, Eggermann T
Abstract excerpt
Cystinuria is a frequent autosomal recessive transport disorder characterized by defective renal resorption of cystine and other dibasic amino acids. Biochemically, three types of cystinuria can be defined. Here we present our results of screening for mutations in the SLC3A1 gene, which codes for a dibasic amino acid transporter protein and appears to be involved in the pathogenesis of cystinuria type I. Our...
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