Article
Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
Pflugers Archiv : European journal of physiology - 1 Jan 2008
Suzuki Masashi, Vaisbich Maria Helena, Yamada Hideomi, Horita Shoko, Li Yuehong, Sekine Takashi, Moriyama Nobuo, Igarashi Takashi, Endo Yoko, Cardoso Thaís P, de Sá Luis Carlos F, Koch Vera H, Seki George, Fujita Toshiro
Abstract excerpt
Mutations in the Na(+)-HCO(3)(-) cotransporter NBC1 cause severe proximal tubular acidosis (pRTA) associated with ocular abnormalities. Recent studies have suggested that at least some NBC1 mutants show abnormal trafficking in the polarized cells. This study identified a new homozygous NBC1 mutation (G486R) in a patient with severe pRTA. Functional analysis in Xenopus oocytes failed to detect the G486R activity...
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