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References

These sources were used to develop the Genetics Home Reference gene summary on the SLC7A9 gene.

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, Palacín M, Rizzoni G. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol. 2002 Oct;13(10):2547-53. PubMed citation
Entrez Gene
Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney. Am J Physiol Renal Physiol. 2002 Sep;283(3):F540-8. PubMed citation
Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet. 2005 Jan;42(1):58-68. PubMed citation
Font MA, Feliubadaló 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, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15;10(4):305-16. PubMed citation
Goodyer P. The molecular basis of cystinuria. Nephron Exp Nephrol. 2004;98(2):e45-9. Review. PubMed citation
Langman CB. The molecular basis of kidney stones. Curr Opin Pediatr. 2004 Apr;16(2):188-93. Review. PubMed citation
OMIM: SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9
Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft für Pädiatrische Nephrologie. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int. 2003 Nov;64(5):1564-72. PubMed citation


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