CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary upper urinary tract malformations. Here, using whole-exome sequencing, we ident...

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Bibliografiske detaljer
Udgivet i:Am J Hum Genet
Main Authors: Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904809/
https://ncbi.nlm.nih.gov/pubmed/31708116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.10.004
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