In silico analysis of point mutation (c.687dupC; p. Met230Hisfs∗6) in PGAM2 gene that causes Glycogen Storage Disease (GSD) Type X

Glycogen storage disease (GSD) type X is an autosomal recessive disorder that affects skeletal muscles and is caused by PGAM-2 (Phosphoglycerate Mutase-2) enzyme deficiency. This deficiency is due to a mutation in the PGAM-2 gene at chromosome number 7p13. A novel insertion mutation (c.687dupC) was...

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Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2025-01-01
Serie:	Kuwait Journal of Science
Soggetti:	3pg frameshift mutation glycogen storage disease type x molecular docking mutation analysis pgam2 premature translation termination protein modelling
Accesso online:	https://www.sciencedirect.com/science/article/pii/S230741082400169X
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