Author:
Font Mariona,Feliubadaló Lídia,Estivill Xavier,Nunes Virginia,Golomb Eliahu,Kreiss Yitshak,Pras Elon,Bisceglia Luigi,d’Adamo Adamo P.,Zelante Leopoldo,Gasparini Paolo,Bassi Maria Teresa,George Jr Alfred L.,Manzoni Marta,Riboni Mirko,Ballabio Andrea,Borsani Giuseppe,Reig Núria,Fernández Esperanza,Zorzano Antonio,Bertran Joan,Palacín Manuel
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Reference38 articles.
1. 1 Garrod, A.E. (1908) Inborn errors of metabolism. Lancet, 2, 1–7.
2. 2 Calonge, M.J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., DiSilverio, F. et al. (1994) Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nature Genet., 6, 420–425.
3. 3 International Cystinuria Consortium (1999) Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo, +AT) of rBAT. Nature Genet., 23, 52–57.
4. 4 Segal, S. and Thier, S.O. (1995) Cystinuria. In Scriver, C.R., Sly, W.S. and Beaudet, A.L. (eds), The Metabolic and Molecular Bases of Inherited Diseases, Vol. III, 7th edn. McGraw-Hill, New York, NY, pp. 3581–3601.
5. 5 Palacín, M., Goodyer, P., Nunes, V. and Gasparini, P. (2001) Cystinuria. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Diseases, Vol. III. McGraw-Hill, New York, NY, 4909–4932.
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