Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family
Objective: To investigate Glycogen storage disease GSD type Ib in a Pakistani family through whole exome sequencing (WES) and Sanger sequencing to identify the genetic mutation and confirm its autosomal recessive inheritance. Methods: This case-control and observational study was conducted at Isla...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Khyber Medical University
2025-03-01
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| Series: | Khyber Medical University Journal |
| Subjects: | |
| Online Access: | https://www.kmuj.kmu.edu.pk/article/view/23808 |
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