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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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2016
Gaiak:
Article
Sarrera elektronikoa: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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