Article
A Novel de novo Mutation in the G6PD Gene in a Korean Boy with Glucose-6-phosphate Dehydrogenase Deficiency: Case Report.
Annals of clinical and laboratory science - 1 Jan 2015
Jang Mi-Ae, Kim Ji-Yoon, Lee Ki-O, Kim Sun-Hee, Koo Hong Hoe, Kim Hee-Jin
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by a mutation in the G6PD gene on Xq28. Herein, we describe a Korean boy with G6PD deficiency resulting from a novel mutation in G6PD. A 20-month-old boy with hemolytic anemia was referred for molecular diagnosis. He had no relevant family history. The G6PD activity was severely decreased at 0.2 U/g Hb (severe...
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