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

@article{Porath2016MutationsIG,
  title={Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.},
  author={Binu Porath and Vladimir G. Gainullin and Emilie Cornec-Le Gall and Elizabeth K Dillinger and Christina M. Heyer and Katharina Hopp and Marie E. Edwards and Charles D. Madsen and Sarah R. Mauritz and Carly J Banks and Saurabh Baheti and Bharathi V Reddy and Jos{\'e} Ignacio Herrero and Jes{\'u}s Mar{\'i}a Banales and Marie C. Hogan and Velibor B Tasic and Terry J. Watnick and Arlene B. Chapman and C{\'e}cile Vigneau and Fr{\'e}d{\'e}ric Lavainne and M. Audr{\'e}zet and Greg Conf. Sec. Smith and Yannick Le Meur and Vicente E Torres and Peter C Harris},
  journal={American journal of human genetics},
  year={2016},
  volume={98 6},
  pages={
          1193-1207
        }
}
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 disease (PLD), which can be severe and associated with significant morbidity. Autosomal… CONTINUE READING
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