Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. E...

Full description

Saved in:
Bibliographic Details
Main Authors: Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Data in Brief
Subjects:
Homo sapiens
Rare disease
Whole exome sequencing
Cipto mangunkusumo national hospital
Jakarta
Indonesia
Online Access:http://www.sciencedirect.com/science/article/pii/S2352340924011934
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S2352340924011934

Similar Items