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Journal Abstract Search

268 related items for PubMed ID: 12820697

  • 1. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.
    Genet Test; 2003; 7(1):13-20. PubMed ID: 12820697
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  • 2. 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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  • 3. SLC7A9 mutations in all three cystinuria subtypes.
    Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R.
    Kidney Int; 2002 Nov; 62(5):1550-9. PubMed ID: 12371955
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  • 4. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
    Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T, Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN).
    Kidney Int; 2002 Oct; 62(4):1136-42. PubMed ID: 12234283
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  • 5. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
    Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.
    Ann Hum Genet; 2005 Sep; 69(Pt 5):501-7. PubMed ID: 16138908
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  • 6. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
    Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T, Arbeitsgemeinschaft für Pädiatrische Nephrologie.
    Kidney Int; 2003 Nov; 64(5):1564-72. PubMed ID: 14531788
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  • 9. Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
    Saadi I, Chen XZ, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R.
    Kidney Int; 1998 Jul; 54(1):48-55. PubMed ID: 9648062
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  • 11. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
    Egoshi KI, Akakura K, Kodama T, Ito H.
    Kidney Int; 2000 Jan; 57(1):25-32. PubMed ID: 10620184
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  • 12. [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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  • 13. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
    Yuen YP, Lam CW, Lai CK, Tong SF, Li PS, Tam S, Kwan EY, Chan SY, Tsang WK, Chan KY, Mak WL, Cheng CW, Chan YW.
    Kidney Int; 2006 Jan 08; 69(1):123-8. PubMed ID: 16374432
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  • 18. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.
    Pras E.
    Mol Urol; 2000 Jan 08; 4(4):409-14. PubMed ID: 11156709
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  • 19. Cystinuria in a patient with a novel mutation in SLC7A9 gene.
    Koulivand L, Mohammadi M, Ezatpour B, Kheirollahi M.
    Iran J Kidney Dis; 2015 Jan 08; 9(1):63-6. PubMed ID: 25599739
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