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414 related items for PubMed ID: 23114896

  • 1. Genetic causes and mechanisms of distal renal tubular acidosis.
    Batlle D, Haque SK.
    Nephrol Dial Transplant; 2012 Oct; 27(10):3691-704. PubMed ID: 23114896
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  • 8. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
    Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA.
    Clin Genet; 2013 Mar; 83(3):274-8. PubMed ID: 22509993
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  • 9. Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
    Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G.
    BMC Med Genet; 2013 Nov 20; 14():119. PubMed ID: 24252324
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  • 10. Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.
    Merkulova M, Păunescu TG, Nair AV, Wang CY, Capen DE, Oliver PL, Breton S, Brown D.
    Am J Physiol Renal Physiol; 2018 Jul 01; 315(1):F173-F185. PubMed ID: 29384414
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  • 11. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
    Boualla L, Jdioui W, Soulami K, Ratbi I, Sefiani A.
    Curr Res Transl Med; 2016 Jul 01; 64(1):5-8. PubMed ID: 27140593
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  • 15. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
    Zhao X, Lu J, Gao Y, Wang X, Lang Y, Shao L.
    BMC Nephrol; 2018 Dec 17; 19(1):364. PubMed ID: 30558562
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  • 18. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
    Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F, RenalTube Group.
    Pediatr Nephrol; 2018 Sep 17; 33(9):1523-1529. PubMed ID: 29725771
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  • 19. [Primary distal renal tubular acidosis].
    Bouzidi H, Daudon M, Najjar MF.
    Ann Biol Clin (Paris); 2009 Sep 17; 67(2):135-40. PubMed ID: 19297287
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  • 20. The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene.
    Bruce LJ, Unwin RJ, Wrong O, Tanner MJ.
    Biochem Cell Biol; 1998 Sep 17; 76(5):723-8. PubMed ID: 10353704
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