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Journal Abstract Search

199 related items for PubMed ID: 26540609

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  • 24. Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.
    Chatzikyriakidou A, Kollios KD, Georgiou I.
    Hum Genet; 2009 Aug; 126(2):335. PubMed ID: 19694006
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  • 25. The molecular basis of cystinuria.
    Goodyer P.
    Nephron Exp Nephrol; 2004 Aug; 98(2):e45-9. PubMed ID: 15499206
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  • 27. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.
    Genet Test; 2003 Aug; 7(1):13-20. PubMed ID: 12820697
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  • 28. Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
    Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U.
    Pediatr Nephrol; 2014 Jan; 29(1):155-9. PubMed ID: 24045899
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  • 29. In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
    Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M.
    Mol Biol Rep; 2018 Oct; 45(5):1165-1173. PubMed ID: 30069816
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  • 30. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
    Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P.
    Hum Mutat; 2001 Dec; 18(6):516-25. PubMed ID: 11748844
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  • 35. Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
    Martell HJ, Wong KA, Martin JF, Kassam Z, Thomas K, Wass MN.
    BMC Genomics; 2017 Aug 11; 18(Suppl 5):550. PubMed ID: 28812535
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  • 36. Analysis of a 1-year-old cystinuric patient with recurrent renal stones.
    Tanzer F, Ozgur A, Bardakci F, Cankorkmaz L, Ayan S.
    Int J Urol; 2006 Oct 11; 13(10):1347-9. PubMed ID: 17010017
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  • 37. A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.
    Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E.
    Isr Med Assoc J; 2007 Jul 11; 9(7):513-6. PubMed ID: 17710781
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  • 38. Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
    Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker PH, Muller F, Benoist JF.
    Clin Genet; 2017 Dec 11; 92(6):632-638. PubMed ID: 28646536
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  • 39. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
    Breuning MH, Hamdy NA.
    Ned Tijdschr Geneeskd; 2003 Feb 08; 147(6):245-7. PubMed ID: 12621979
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