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Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis

Distal renal tubular acidosis caused by missense mutations in kidney isoform of anion exchanger 1 (kAE1/SLC4A1), the basolateral membrane Cl(−)/HCO(3)(−) exchanger of renal alpha-intercalated cells, has been extensively investigated in heterologous expression systems but rarely in human kidneys. The...

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Detalles Bibliográficos
Autores principales:	Vichot, Alfred A., Zsengellér, Zsuzsanna K., Shmukler, Boris E., Adams, Nancy D., Dahl, Neera K., Alper, Seth L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2017
Materias:	Genetic Diseases
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469557/ https://www.ncbi.nlm.nih.gov/pubmed/28638614 http://dx.doi.org/10.1093/ckj/sfw074

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