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Article

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

Journal of inherited metabolic disease - 1 Feb 2001

Rudolfová J, Slovácková R, Trbusek M, Pesková K, St'astná S, Kozák L

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11286390
DOI: 10.1023/a:1005635629149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.PMID 11286390Read ↗

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

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

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

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

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

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

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 ↗

Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.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 PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.Semantic proximity Read ↗

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