Novel GANAB variants associated with polycystic liver disease

Novel GANAB variants associated with polycystic liver disease

Abstract Background Polycystic liver disease (PLD) is an inherited disorder characterized by numerous cysts in the liver. Autosomal dominant polycystic kidney and liver disease (ADPKD and ADPLD, respectively) have been linked to pathogenic GANAB variants. GANAB encodes the α-subunit of glucosidase I...

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Main Authors: Liyanne F. M. van de Laarschot, René H. M. te Morsche, Alexander Hoischen, Hanka Venselaar, Hennie M. Roelofs, Wybrich R. Cnossen, Jesus M. Banales, Ronald Roepman, Joost P. H. Drenth
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Polycystic liver disease
Glucosidase II
Molecular inversion probe analysis
Liver cysts
Cholangiocytes
Online Access:http://link.springer.com/article/10.1186/s13023-020-01585-4

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