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Items: 2

Select item 58055831.

A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family

Whitney Besse, Jungmin Choi, Dina Ahram, Shrikant Mane, Simone Sanna-Cherchi, Vicente Torres, Stefan Somlo

Hum Mutat. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Hum Mutat. 2018 Mar; 39(3): 378–382. Published online 2018 Jan 24. doi: 10.1002/humu.23383

PMCID:: PMC5805583

Abstract Article PDF–636K

Select item 49081912.

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

Binu Porath, Vladimir G. Gainullin, Emilie Cornec-Le Gall, Elizabeth K. Dillinger, Christina M. Heyer, Katharina Hopp, Marie E. Edwards, Charles D. Madsen, Sarah R. Mauritz, Carly J. Banks, Saurabh Baheti, Bharathi Reddy, José Ignacio Herrero, Jesús M. Bañales, Marie C. Hogan, Velibor Tasic, Terry J. Watnick, Arlene B. Chapman, Cécile Vigneau, Frédéric Lavainne, Marie-Pierre Audrézet, Claude Ferec, Yannick Le Meur, Vicente E. Torres, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Peter C. Harris

Am J Hum Genet. 2016 Jun 2; 98(6): 1193–1207. Published online 2016 Jun 2. doi: 10.1016/j.ajhg.2016.05.004