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Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
Glucose-6-phosphatase catalytic subunit (G6PC) on Chromosome 9
Variant Detected:
Base Substitution c.450G>C p.Met121Ile
Severity:
Low. This disease generally causes mild signs of disease, or can be quite easily treated/managed.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Kishnani PS. et al. Isolation and Nucleotide Sequence of Canine Glucose-6-phosphatase mRNA: Identification of Mutation in Puppies with Glycogen Storage Disease Type Ia. (1997) Biochem Mol Med 61(2);168-177
Associated Breed(s):
Maltese, Mixed Breed, Moodle,