| 1 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
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| Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.
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| Mol Genet Metab 99(1):42-52. Epub .PMID: 19782624 2010
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| 2 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
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| Chatzikyriakidou A, Louizou E, Dedousis GV, Bisceglia L, Michelakakis H, Georgiou I.
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| Mol Genet Metab 95(3):192-3. Epub 2008 Sep 7. No abstract available. 2008
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| 3 | CSNU1, SLC3A1
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| Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype.
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| Bartoccioni P, Rius M, Zorzano A, Palacín M, Chillarón J.
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| Hum Mol Genet 17(12):1845-54. Epub 2008 Mar 10.
2008
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| 4 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
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| Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V.
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| J Med Genet 42(1):58-68. 2005
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| 5 | SLC3A1, CSNU1
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| Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.
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| Guillen M, Corella D, Cabello ML, Gonzalez JI, Sabater A, Chaves JF, Hernandez-Yago J.
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| Clin Genet 67(3):240-51. 2005
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| 6 | CSNU1, SLC3A1, SLC7A9, CSNU3
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| Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
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| Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft fur Padiatrische Nephrologie.
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| Kidney Int 64(5):1564-72. 2003
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| 7 | CSNU1, CSNU3, SLC3A1, SLC7A9
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| Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
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| 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.
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| J Am Soc Nephrol 13(10):2547-53. 2002
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| 8 | CSNU1, SLC3A1
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| Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
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| Guillen M, Corella D, Cabello ML, Garcia AM, Portoles O, Hernandez-Yago J.
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| Hum Genet 106(3):314-20. 2000
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| 9 | CSNU1, SLC3A1
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| Molecular genetics of cystinuria : mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
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| Saadi U, et al.
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| Kidney Int 54 : 48-55. 1998
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| 10 | CSNU1, SLC3A1
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| Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.
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| Gitomer WL, et al.
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| J Clin Endocrinol Metab 83 : 3688-3694. 1998
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| 11 | CSNU1, SLC3A1
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| Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
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| Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr.
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| Kidney Int 51(6):1893-9. 1997
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| 12 | SLC3A1, CSNU1
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| Molecular genetics of cystinuria in French Canadians : identification of four novel mutations in type I patients.
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| Horsford J, et al.
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| Kidney Int 49 : 1401-1406. 1996
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| 13 | CSNU1
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| Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
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| De Sanctis L, et al.
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| J Inherit Metab Dis 19 : 243-245. 1996
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| 14 | SLC3A1, CSNU1
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| Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
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| Pras E, et al.
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| Genomics 36 : 163-167. 1996
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| 15 | SLC3A1, CSNU1
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| Molecular analysis of the cystinuria disease gene : identification of four new mutations, one large deletion, and one polymorphism.
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| Bisceglia L, et al.
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| Hum Genet 98 : 447-451. 1996
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| 16 | SLC3A1, CSNU1
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| Genomic structure and organization of the human rBAT gene (SLC3A1).
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| Purroy J, et al.
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| Genomics 37 : 249-252. 1996
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| 17 | SLC3A1, CSNU1
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| Molecular genetics of cystinuria : identification of four new mutations and seven polymorphisms and evidence for genetic heterogeneity.
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| Gasparini P, et al.
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| Am J Hum Genet 57 : 781-788. 1995
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| 18 | CSNU1, SLC3A1
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| Genetic heterogeneity in cystinuria : The SLC3A1 gene is linked to type I but not to type III cystinuria.
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| Calonge MJ, et al.
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| Proc Natl Acad Sci U S A 92 : 9667-9671. 1995
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| 19 | CSNU1, SLC3A1
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| Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
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| Calonge MJ, et al.
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| Hum Genet 95 : 633-636. 1995
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| 20 | CSNU1, SLC3A1
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| Mutations in the SLC3A1 transporter gene in cystinuria.
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| Pras E, et al.
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| Am J Hum Genet 56 : 1297-1303. 1995
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| 21 | CSNU1
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| Localization of a gene causing cystinuria to chromosome 2p.
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| Pras E, et al.
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| Nat Genet 6 : 415-419. 1994
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| 22 | CSNU1, SLC3A1
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| Mutations in the SLC3A1 gene and the molecular basis of cystinuria. (abstr)
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| Pras E, et al.
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| Am J Hum Genet 55 : A236. 1994
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| 23 | CSNU1, SLC3A1
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| Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization.
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| Zhang XX, et al.
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| Genomics 24 : 413-414. 1994
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