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Article

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

Journal of inherited metabolic disease - 1 Feb 1999

Stroppiano M, Regis S, DiRocco M, Caroli F, Gandullia P, Gatti R

Abstract excerpt

Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Recent cloning of the G6Pase gene and the subsequent identification of several disease-causing mutations have shown an ethnic molecular heterogeneity. Using SSCP analysis and DNA sequencing, we characterized the G6Pase gene of 53 unrelated Italian patients. The two most...

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Identifiers

PMID: 10070617
DOI: 10.1023/a:1005495131118

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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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