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Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2007

Deng Chun, Guo Chun-Bao, Xu You-Hua, Deng Bing, Yu Jia-Lin

Abstract excerpt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The underlying DNA changes associated with G6PD deficiency in Asian subjects have not been extensively investigated. METHODS: Three gene mutations (G1388A, G1376T, A95G, corresponding amino acid change: Arg463His, Arg459Leu, His32Arg,...

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PMID: 17587269
DOI: 10.1111/j.1442-200X.2007.02398.x

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