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Article

Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.

Genetic testing and molecular biomarkers - 1 Jun 2010

Zappu Antonietta, Lilliu Franco, Podda Rosa Anna, Loudianos Georgios

Abstract excerpt

We describe epidemiological, genetic, and clinical data of the 1124-2del mutation in the G6PT gene, detected in homozygosity in three glycogen storage disease type Ib patients of Sardinian origin. This mutation was found to be associated with four sequence variations: c.593 A>T (p.N198I), c.625+19 C>T, c.1062 C>T (N354N), and c.1224 G>A (p.T408T) in the G6PT gene. RNA studies were performed for c.1124-2del and...

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PMID: 20578944
DOI: 10.1089/gtmb.2010.0024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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