These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger. Jarolim P; Shayakul C; Prabakaran D; Jiang L; Stuart-Tilley A; Rubin HL; Simova S; Zavadil J; Herrin JT; Brouillette J; Somers MJ; Seemanova E; Brugnara C; Guay-Woodford LM; Alper SL J Biol Chem; 1998 Mar; 273(11):6380-8. PubMed ID: 9497368 [TBL] [Abstract][Full Text] [Related]
5. Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis. Zhang Z; Liu KX; He JW; Fu WZ; Yue H; Zhang H; Zhang CQ; Zhang ZL Arch Med Res; 2012 May; 43(4):298-304. PubMed ID: 22609520 [TBL] [Abstract][Full Text] [Related]
6. 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 [TBL] [Abstract][Full Text] [Related]
14. 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; 76(5):723-8. PubMed ID: 10353704 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. Cheidde L; Vieira TC; Lima PR; Saad ST; Heilberg IP Pediatrics; 2003 Dec; 112(6 Pt 1):1361-7. PubMed ID: 14654610 [TBL] [Abstract][Full Text] [Related]
16. Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis. Walsh S; Borgese F; Gabillat N; Unwin R; Guizouarn H Am J Physiol Renal Physiol; 2008 Aug; 295(2):F343-50. PubMed ID: 18524859 [TBL] [Abstract][Full Text] [Related]
17. A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular acidosis. Takeuchi T; Hattori-Kato M; Okuno Y; Kanatani A; Zaitsu M; Mikami K Sci Rep; 2016 Oct; 6():35841. PubMed ID: 27767102 [TBL] [Abstract][Full Text] [Related]
18. Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO Guerra Hernández NE; Gómez Tenorio C; Méndez Silva LP; Moraleda Mesa T; Escobar LI; Salvador C; Vargas Poussou R; García Nieto VM Nefrologia (Engl Ed); 2023; 43(4):484-490. PubMed ID: 37775346 [TBL] [Abstract][Full Text] [Related]
19. 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; 37(3):473-8. PubMed ID: 20960171 [TBL] [Abstract][Full Text] [Related]
20. Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1 Cl-/HCO3-exchanger. Shmukler BE; Wilhelm S; Alper SL DNA Seq; 2000; 11(5):447-50. PubMed ID: 11328653 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]