Gene involved G6PC1
Mutation tested c.363G>C
Transmission mode : Autosomal recessive
Publication : Kishnani et al. (1997). Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.
Gene involved G6PC1
Mutation tested c.634_ 635ins76
Transmission mode : Autosomal recessive
Publication : Christen et al. (2021). Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).