Article
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
American journal of human genetics - 2 Jun 2016
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
Abstract excerpt
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 of ADPKD. Extrarenal manifestations include an increased level of intracranial aneurysms and polycystic liver...
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