Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

@article{Calonge1995GeneticHI,
  title={Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.},
  author={Mar{\'i}a Julia Calonge and V{\'i}ctor Volpini and Luigi Bisceglia and Ferran Rousaud and Luisa de Sanctis and Ercole Beccia and Leopoldo Zelante and Xavier Testar and Antonio Zorzano and Xavier Estivill},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1995},
  volume={92 21},
  pages={9667-71}
}
Cystinuria is an autosomal recessive amino-aciduria where three urinary phenotypes have been described (I, II, and III). An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. To assess whether mutations in SLC3A1 are involved in different cystinuria phenotypes, linkage with this gene and its nearest marker (D2S119) was analyzed in 22 families with type I and/or type III cystinuria. Linkage with heterogeneity was proved (alpha = 0.45; P < 0.008… CONTINUE READING

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