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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Hlavní autoři:	Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2022-08-01
Edice:	Frontiers in Genetics
Témata:	glycogen storage diseases mutation whole exome sequencing GAA gene AGL gene PHKA2 gene
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2022.932760/full
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