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

doi:10.1038/ki.1997.258

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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 screenin...

Topics

Amino Acid Sequence
Amino Acid Transport Systems
Base Sequence
Carrier Proteins
Cloning, Molecular
Cystine
Cystinuria
Exons
Genes
Genome
Humans
Introns
Molecular Sequence Data
Mutation

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