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Article

Functional characterization of nonsynonymous single nucleotide polymorphisms in the electrogenic Na+-HCO3- cotransporter NBCe1A.

Pflugers Archiv : European journal of physiology - 1 Feb 2011

Yamazaki Osamu, Yamada Hideomi, Suzuki Masashi, Horita Shoko, Shirai Ayumi, Nakamura Motonobu, Seki George, Fujita Toshiro

Abstract excerpt

The electrogenic Na(+)-HCO(3)(-) cotransporter NBCe1 encoded by SLC4A4 plays essential roles in the regulation of intracellular/extracellular pH. Homozygous mutations in NBCe1 cause proximal renal tubular acidosis associated with ocular abnormalities. In the present study, we tried to perform fun...

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Identifiers

PMID: 21234596
DOI: 10.1007/s00424-010-0918-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21234596-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Functional characterization of nonsynonymous single nucleotide polymorphisms in the electrogenic Na+-HCO3- cotransporter NBCe1A.PMID 21234596Read ↗

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