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Article

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.

American journal of human genetics - 1 Apr 1998

Burwinkel B, Bakker H D, Herschkovitz E, Moses S W, Shin Y S, Kilimann M W

Abstract excerpt

Deficiency of glycogen phosphorylase in the liver gives rise to glycogen-storage disease type VI (Hers disease; MIM 232700). We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease. These are two splice-site mutations and two missense mutations. A mutation of the 5' splice-site consensus of intron 14 causes the...

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Identifiers

PMID: 9529348
DOI: 10.1086/301790
PMCID: PMC1377030

Genes

PYGL
PYGM

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.

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Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.PMID 9529348Read ↗

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