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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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2019
Konular:
Report
Online Erişim: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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