Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease (ESRD), which requires transplantation or dialysis. Mutations in PKD1 or PKD2 (∼85% and ∼15% of resolved cases, respectively) are the known causes...

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Publicado no:Am J Hum Genet
Main Authors: Porath, Binu, Gainullin, Vladimir G., Cornec-Le Gall, Emilie, Dillinger, Elizabeth K., Heyer, Christina M., Hopp, Katharina, Edwards, Marie E., Madsen, Charles D., Mauritz, Sarah R., Banks, Carly J., Baheti, Saurabh, Reddy, Bharathi, Herrero, José Ignacio, Bañales, Jesús M., Hogan, Marie C., Tasic, Velibor, Watnick, Terry J., Chapman, Arlene B., Vigneau, Cécile, Lavainne, Frédéric, Audrézet, Marie-Pierre, Ferec, Claude, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4908191/
https://ncbi.nlm.nih.gov/pubmed/27259053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.004
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