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Article

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

Congenital anomalies - 1 Mar 2024

Sato Takeshi, Ichihashi Yosuke, Sugie Hideo, Ishii Tomohiro, Hasegawa Tomonobu

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38361096
DOI: 10.1111/cga.12555

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A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.PMID 38361096Read ↗

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

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.Semantic proximity Read ↗

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

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 ↗

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

Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.Semantic proximity Read ↗

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

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.Semantic proximity Read ↗

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.Semantic proximity Read ↗

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