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Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

Human mutation - 1 Jan 1999

Rake J P, ten Berge A M, Verlind E, Visser G, Niezen-Koning K E, Buys C H, Smit G P, Scheffer H

Abstract excerpt

Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is...

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PMID: 10094563
DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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