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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. Karet FE, et al. Among authors: unwin rj. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. doi: 10.1073/pnas.95.11.6337. Proc Natl Acad Sci U S A. 1998. PMID: 9600966 Free PMC article.
Oncogenic osteomalacia, raised FGF-23, and renal Fanconi syndrome.
Norden AG, Laing RJ, Rowe P, Unwin RJ, Wrong O, Crisp AJ. Norden AG, et al. Among authors: unwin rj. QJM. 2014 Feb;107(2):139-41. doi: 10.1093/qjmed/hcr247. Epub 2011 Dec 16. QJM. 2014. PMID: 22179099 Free PMC article. No abstract available.
257 results