HuGE Literature Finder
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Records 1-9
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No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.
BMC nephrology 2018 Oct 19 (1): 278. Olschok Kathrin, Vester Udo, Lahme Sven, Kurth Ingo, Eggermann Thom |
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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.
Molecular genetics and metabolism 2010 Jan 99 (1): 42-52. Bisceglia Luigi, Fischetti Lucia, Bonis Patrizia De, Palumbo Orazio, Augello Bartolomeo, Stanziale Pietro, Carella Massimo, Zelante Leopol |
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An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Molecular genetics and metabolism 2008 Nov 95 (3): 192-3. Chatzikyriakidou Anthoula, Louizou Eirini, Dedousis George V Z, Bisceglia Luigi, Michelakakis Helen, Georgiou Ioann |
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A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Kidney international 2006 Apr 69 (7): 1198-206. Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim D K, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou |
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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Journal of medical genetics 2005 Jan 42 (1): 58-68. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes |
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The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Urological research 2004 May 32 (2): 75-8. Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T |
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Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
Clinical nephrology 2003 May 59 (5): 353-9. Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor K G, Zappel H F, |
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Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Genetic testing 2003 7 (1): 13-20. Harnevik Lotta, Fjellstedt Erik, Molbaek Annette, Denneberg Torsten, Söderkvist Pet |
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Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Journal of the American Society of Nephrology : JASN 2002 Oct 13 (10): 2547-53. Dello Strologo Luca, Pras Elon, Pontesilli Claudia, Beccia Ercole, Ricci-Barbini Vittorino, de Sanctis Luisa, Ponzone Alberto, Gallucci Michele, Bisceglia Luigi, Zelante Leopoldo, Jimenez-Vidal Maite, Font Mariona, Zorzano Antonio, Rousaud Ferran, Nunes Virginia, Gasparini Paolo, Palacín Manuel, Rizzoni Gianfran |
- Page last reviewed:Jul 30, 2019
- Page last updated:Dec 12, 2019
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