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Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism.

Blood cells, molecules & diseases - 1 Jan 2000

Li Liang, Zhou Yu-Qiu, Xiao Qi-Zhi, Yan Ti-Zhen, Xu Xiang-Min

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited disorder worldwide including southern China. We developed and validated a reverse dot blot (RDB) assay for the rapid and simultaneous genotyping of six mutations (c.95A>G, c.871G>A, c.1004C>T, c.1024C>T, c.1376G>T and c.1388G>A), that were common mutations in the Chinese G6PD deficiency population, and one polymorphism (c.1311C>T). Reliable...

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PMID: 18329300
DOI: 10.1016/j.bcmd.2008.01.007

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