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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發表在: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
格式: Artigo
語言:Inglês
出版: 2019
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Article
在線閱讀: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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