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Article

Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.

Journal of inherited metabolic disease - 1 Jan 2003

Qiu W J, Gu X F, Ye J, Han L Sh, Zhang Y F, Liu X Q

Abstract excerpt

Sequence analysis of 26 patients from Mainland China with glycogen storage disease type Ia revealed a high frequency of two mutations in the glucose-6-phosphatase gene. These mutations, 727G>T and R83H, were also found to be in linkage disequilibrium with a polymorphism at position 1176. These findings have implications for carrier detection and prenatal diagnosis of this disease in the Chinese population.

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Identifiers

PMID: 14765536
DOI: 10.1023/b:boli.0000009992.78840.77

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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