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Journal Abstract Search

308 related items for PubMed ID: 22609520

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  • 2. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
    Sritippayawan S, Sumboonnanonda A, Vasuvattakul S, Keskanokwong T, Sawasdee N, Paemanee A, Thuwajit P, Wilairat P, Nimmannit S, Malasit P, Yenchitsomanus PT.
    Am J Kidney Dis; 2004 Jul; 44(1):64-70. PubMed ID: 15211439
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  • 4. Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.
    Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S.
    Am J Kidney Dis; 2002 Jul; 40(1):21-9. PubMed ID: 12087557
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  • 6. [Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].
    DU J, Pang QQ, Jiang Y, Wang O, Li M, Xing XP, Xia WB.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Apr; 19(4):381-384. PubMed ID: 28407820
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  • 10. 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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  • 12. A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.
    Sakuraya K, Nozu K, Oka I, Fujinaga S, Nagano C, Ohtomo Y, Iijima K.
    CEN Case Rep; 2020 Nov; 9(4):442-445. PubMed ID: 32632909
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  • 14. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
    Karet FE, Gainza FJ, Györy AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP.
    Proc Natl Acad Sci U S A; 1998 May 26; 95(11):6337-42. PubMed ID: 9600966
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  • 16. A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.
    Shao L, Xu Y, Dong Q, Lang Y, Yue S, Miao Z.
    Endocrine; 2010 Jun 26; 37(3):473-8. PubMed ID: 20960171
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  • 19. Human anion exchanger1 mutations and distal renal tubular acidosis.
    Yenchitsomanus PT.
    Southeast Asian J Trop Med Public Health; 2003 Sep 26; 34(3):651-8. PubMed ID: 15115146
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  • 20. 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 26; 33(9):1523-1529. PubMed ID: 29725771
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