Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of human genetics - 1 Jun 1999

Hendrickx J, Lee P, Keating J P, Carton D, Sardharwalla I B, Tuchman M, Baussan C, Willems P J

Abstract excerpt

X-linked liver glycogenosis (XLG) is probably the most frequent glycogen-storage disease. XLG can be divided into two subtypes: XLG I, with a deficiency in phosphorylase kinase (PHK) activity in peripheral blood cells and liver; and XLG II, with normal in vitro PHK activity in peripheral blood cells and with variable activity in liver. Both types of XLG are caused by mutations in the same gene, PHKA2, that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Primers
Share to Genetic Linkage

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

Share to Glycogen Storage Disease Type I

Share to Glycogen Storage Disease Type II

Share to Introns

Share to Polymorphism, Single-Stranded Conformational

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 10330341
DOI: 10.1086/302399
PMCID: PMC1377897

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.PMID 10330341Read ↗

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.Semantic proximity Read ↗

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.Semantic proximity Read ↗

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).Semantic proximity Read ↗

3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.Semantic proximity Read ↗

Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.Semantic proximity Read ↗

Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.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 ↗

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

Glycogen storage disease type IX: High variability in clinical phenotype.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.