335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria

This publication has 9 references indexed in Scilit:

• Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
  Human Genetics, 1995
• Assignment of the Gene for Cystinuria (SLC3A1) to Human Chromosome 2p21 by Fluorescence in Situ Hybridization
  Genomics, 1994
• Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene.
  Proceedings of the National Academy of Sciences, 1994
• Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
  Nature Genetics, 1994
• Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.
  Journal of Clinical Investigation, 1993
• Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases.
  Proceedings of the National Academy of Sciences, 1992
• Expression cloning of a Na(+)-independent neutral amino acid transporter from rat kidney.
  Proceedings of the National Academy of Sciences, 1992
• A routine method for the establishment of permanent growing lymphoblastoid cell lines
  Human Genetics, 1986
• The Pathogenesis of Cystinuria. II. Polarographic Studies of the Metabolism of Sulphur-Containing Amino-Acids
  Journal of Clinical Investigation, 1954