Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58–70% of familial cases of distal renal tubular acidosis...

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Udgivet i:Kidney Int
Main Authors: Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F., Majmundar, Amar J., Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E., Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F., Fathy, Hanan M., Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A., Mane, Shrikant, Lifton, Richard P., Kane, Patricia M., Alper, Seth, Hildebrandt, Friedhelm
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7039771/
https://ncbi.nlm.nih.gov/pubmed/31959358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2019.09.026
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