Novel GANAB variants associated with polycystic liver disease

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 II (GIIα)...

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Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: van de Laarschot, Liyanne F. M., te Morsche, René H. M., Hoischen, Alexander, Venselaar, Hanka, Roelofs, Hennie M., Cnossen, Wybrich R., Banales, Jesus M., Roepman, Ronald, Drenth, Joost P. H.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7585303/
https://ncbi.nlm.nih.gov/pubmed/33097077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01585-4
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