Abstract
Summary: 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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Qiu, W.J., Gu, X.F., Ye, J. et al. Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients. J Inherit Metab Dis 26, 811–812 (2003). https://doi.org/10.1023/B:BOLI.0000009992.78840.77
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DOI: https://doi.org/10.1023/B:BOLI.0000009992.78840.77