Abstract
Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).
Highlights
Glycogen storage diseases (GSD) are a group of inherited disorders of carbohydrate metabolism that occur in humans and animals
Variants in 20 different genes are currently known to result in GSD in humans.[1]
The disease is characterized by severe hypoglycemia and hepatomegaly owing to hepatic glycogen accumulation early in life.[2]
Summary
Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A). Matthias Christen* , Wencke Reineking†, Andreas Beineke†, Vidhya Jagannathan* , Wolfgang Baumga€rtner† and Tosso Leeb* *Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern 3001, Switzerland; †Department of Pathology, University of Veterinary Medicine, Hannover 30559, Germany Accepted for publication 24 September 2021
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