Article
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.
Proceedings of the National Academy of Sciences of the United States of America - 10 Oct 1995
Calonge M J, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X
Abstract excerpt
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 cystinuri...
Topics
- Adolescent
- Adult
- Amino Acid Transport Systems, Basic
- Amino Acids, Diamino
- Belgium
- Carrier Proteins
- Child
- Chromosomes, Human, Pair 2
- Creatinine
- Cystinuria
- Female