Zitieren

Segal S, Thier SO. Cystinuria. In: Scriver CR, Beaudet AL, Sly WS, eds: The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill. 1995; 3581-3601.Search in Google Scholar

Chillaron J, Roca R, Valencia A, Zorzano A, Palacin M. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol 2001; 281(6): 995-1018.10.1152/ajprenal.2001.281.6.F99511704550Search in Google Scholar

Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccila B, Di Silverio F. Cystinuria caused by mutation in rBAT, a gene involved in the transport of cystine. Nat Genet 1994; 6(4): 420-425.10.1038/ng0494-4208054986Search in Google Scholar

Bisceglia L, Calonge MJ, Totaro A, Feliubadalo L, Melchionda S, Garcia J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacin M. Localization, by linkage analysis, of cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 1997; 60(3): 611-616.Search in Google Scholar

Wartenfeld R, Golomb E, Katz G, Bale SJ, Goldman B, Pras M, Kastner DL, Pras E. Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene mapping of a new locus on 19q. Am J Hum Genet 1997; 60(3): 617-624.Search in Google Scholar

Rosenberg L, Downing S, Durant JL, Segal S. Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest 1966; 45(3): 365-371.10.1172/JCI1053512927065904553Search in Google Scholar

Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernandez E, Estevez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacin M., International Cystinuria Consortium. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b0,+AT) of rBAT. Nat Genet 1999; 23(1): 52-57.10.1038/1265210471498Search in Google Scholar

Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 2002; 13(10): 2547-2553.10.1097/01.ASN.0000029586.17680.E512239244Search in Google Scholar

Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. New insights into cystinuria: 40 new mutation, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 2005; 42(1): 58-68.10.1136/jmg.2004.022244173591315635077Search in Google Scholar

The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (HGMD), 2008 ( http://www.hgmd.cf.ac.uk/ac/index.phpSearch in Google Scholar

Font MA, Feliubadalo L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernandez E, Zorzano A, Bertran J, Palacin M., International Cystinuria Consortium. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet 2001; 10(4): 305-316.10.1093/hmg/10.4.30511157794Search in Google Scholar

Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 1996; 98(4): 447-451.10.1007/s0043900502378792820Search in Google Scholar

Saadi I, Chen XZ, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R. Molecular genetics of cystinuria: mutation analysis of SLC3A1 evidence for another gene in type I (silent) phenotype. Kidney Int 1998; 54(1): 48-55.10.1046/j.1523-1755.1998.00956.x9648062Search in Google Scholar

Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat 2005; 26(3): 205-213.10.1002/humu.2021216086312Search in Google Scholar

ISSN:
1311-0160
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
2 Hefte pro Jahr
Fachgebiete der Zeitschrift:
Medizin, Vorklinische Medizin, Grundlagenmedizin, andere