Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases

Background: Glycogen storage diseases (GSDs) are known as a group of disorders characterized by genetic errors leading to accumulation of glycogen in various tissues. Since different types of GSD can sometimes be clinically indistinguishable, next generation sequencing is becoming a powerful tool fo...

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Bibliographic Details
Main Authors: Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
glycogen storage diseases
mutation
whole exome sequencing
GAA gene
AGL gene
PHKA2 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.932760/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.932760/full

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