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Article

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3.

American journal of medical genetics. Part A - 15 Nov 2008

Schoser Benedikt, Gläser Dieter, Müller-Höcker Josef

Abstract excerpt

We report on clinicopathological and whole body MRI analyses of the index patient of a large nonconsanguineous German-Ukraine family with homozygous and heterozygous AGL gene mutations at position p.W1327X (c.3980G > A). There are only limited reports on this phenotype with a homozygous genotype....

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Source

Identifiers

PMID: 18924225
DOI: 10.1002/ajmg.a.32529

Genes

AGL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18924225-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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