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

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

Journal of inherited metabolic disease - 1 Dec 1998

Hirono H, Shoji Y, Takahashi T, Sato W, Takeda E, Nishijo T, Kuroda Y, Nishigaki T, Inui K, Takada G

Abstract excerpt

We analysed the gene of the human alpha-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 by RT-PCR followed by PCR-single-strand conformation polymorphism and direct DNA sequencing. In this study, two novel mutations (Y116D and 2675A-->G) and one mutation previously reported (P1205L) were identified, revealing molecular...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to Child, Preschool

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

Share to DNA Mutational Analysis

Share to Genetic Linkage

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 9870210
DOI: 10.1023/a:1005422819207

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

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.PMID 9870210Read ↗

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

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

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.Semantic proximity Read ↗

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.Semantic proximity Read ↗

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

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

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.Semantic proximity Read ↗

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).Semantic proximity Read ↗

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.Semantic proximity Read ↗

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).Semantic proximity Read ↗

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