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Article

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.

Human genetics - 1 Apr 1995

Gossen M, Wüllrich A, Kilimann M W

Abstract excerpt

A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1). It should be a useful marker for linkage analysis of families with heritable phosphorylase kinase deficiency and for gene mapping in the vicinity of the X inactivation center.

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Identifiers

PMID: 7705849
DOI: 10.1007/BF00208982

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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→

Click a neighbor to travelStep 1 · 12 closest

Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.PMID 7705849Read ↗

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

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.Semantic proximity Read ↗

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

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

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

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesSemantic proximity Read ↗

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

Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13.Semantic proximity Read ↗

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).Semantic proximity Read ↗

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