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Article

Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.

Pediatrics and neonatology - 1 Jul 2023

Lin Wei-De, Tsai Fuu-Jen, Wang Chung-Hsing

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37280121
DOI: 10.1016/j.pedneo.2023.03.005

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Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.PMID 37280121Read ↗

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.Semantic proximity Read ↗

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PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.Semantic proximity Read ↗

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.Semantic proximity Read ↗

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.Semantic proximity Read ↗

A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.Semantic proximity Read ↗

[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].Semantic proximity Read ↗

[Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].Semantic proximity Read ↗

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.Semantic proximity Read ↗

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.Semantic proximity Read ↗

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.Semantic proximity Read ↗

Novel sequence of PHKG2 mutation associated with first case of glycogen storage disease type IXc in Syria: a case reportSemantic proximity Read ↗

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