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

Internet

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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