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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585303/
https://www.ncbi.nlm.nih.gov/pubmed/33097077
http://dx.doi.org/10.1186/s13023-020-01585-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585303/
https://www.ncbi.nlm.nih.gov/pubmed/33097077
http://dx.doi.org/10.1186/s13023-020-01585-4

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