Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

KCNJ16 encodes K(ir)5.1 and acts in combination with K(ir)4.1, encoded by KCNJ10, to form an inwardly rectifying K(+) channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This K(ir)4.1/K(ir)5.1 channel is critical for controlling basolateral membrane potential and...

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Detalles Bibliográficos
Autores principales: Webb, Bryn D., Hotchkiss, Hilary, Prasun, Pankaj, Gelb, Bruce D., Satlin, Lisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484552/
https://www.ncbi.nlm.nih.gov/pubmed/33840812
http://dx.doi.org/10.1038/s41431-021-00883-0

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