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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha: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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