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Article

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

Kidney international - 1 Jun 1997

Endsley J K, Phillips J A, Hruska K A, Denneberg T, Carlson J, George A L

Abstract excerpt

Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis. Mutations in a gene encoding a renal amino acid transporter (SLC3A1) have been identified in patients with cystinuria establishing one molecular cause for the disease. To facilitate systematic screening of this gene for mutations, we have delineated the complete genomic organization of the SLC3A1 coding region using...

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Identifiers

PMID: 9186880
DOI: 10.1038/ki.1997.258

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