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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| Format: | Article |
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| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Kuwait Journal of Science |
| Subjects: | |
| Online Access: | https://www.sciencedirect.com/science/article/pii/S230741082400169X |
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