Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family

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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Bibliographic Details
Main Authors: Zeeshan Nazir, Musharraf Jelani, Naveed Wasif, Fakhar Alam
Format: Article
Language:English
Published: Khyber Medical University 2025-03-01
Series:Khyber Medical University Journal
Subjects:
gsd ib
g6pt1
neutropenia
hepatomegaly
glycogen storage disease ib
irritable bowel syndrome
ibs
consanguineous
consanguineous marriage
Online Access:https://www.kmuj.kmu.edu.pk/article/view/23808
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