The first reported case of G6PD deficiency due to Seoul mutation in Poland.
作者信息
Kaczorowska-Hac Barbara, Burzynska Beata, Plochocka Danuta, Zak-Jasinska Katarzyna, Rawa Katarzyna, Adamkiewicz-Drozynska Elzbieta
出版信息
Ann Hematol. 2014 May;93(5):879-80. doi: 10.1007/s00277-013-1899-6.
Abstract
摘要
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Glucose-6-phosphate dehydrogenase deficiency.葡萄糖-6-磷酸脱氢酶缺乏症
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A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia--characterization of enzyme using yeast expression system and molecular modeling.一名慢性非球形细胞溶血性贫血患者葡萄糖-6-磷酸脱氢酶基因的新型突变——利用酵母表达系统和分子模型对酶进行表征
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Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism.在患有慢性非球形细胞溶血性贫血、急性溶血性贫血和蚕豆病的波兰葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症患者中发现了几种突变，包括该基因的两种新突变。
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G6PD deficiency.葡萄糖-6-磷酸脱氢酶缺乏症
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