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Article

X-linked liver glycogenosis: localization and isolation of a candidate gene.

Human molecular genetics - 1 May 1993

Hendrickx J, Coucke P, Bossuyt P, Wauters J, Raeymaekers P, Marchau F, Smit G P, Stolte I, Sardharwalla I B, Berthelot J

Abstract excerpt

X-linked phosphorylase kinase (PHK) deficiency causes X-linked liver glycogenosis (XLG) which is the most frequent liver glycogen storage disorder in man. Recently we assigned XLG to the Xp22 chromosomal region by linkage analysis in two families segregating XLG. In this study a further localization of XLG in Xp22 was performed by extending the number of Xp22 markers, by extension of the number of family members...

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Identifiers

PMID: 8518797
DOI: 10.1093/hmg/2.5.583

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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.

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X-linked liver glycogenosis: localization and isolation of a candidate gene.PMID 8518797Read ↗

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

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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 ↗

X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.Semantic proximity Read ↗

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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 ↗

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