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Glycogen Storage Disease IA (Maltese Type) Overview

Glycogen Storage Disease IA (Maltese Type)
US$ 94.00 RRP
US$ 85.00 REGISTERED USER PRICE
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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: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.

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,