东莞地区新生儿G6PD缺乏症发生率及基因突变分析(2)
[Key words] Glucose-6-phosphate dehydrogenase deficiency Newborn screening Multicolor melting curve assay Gene mutationFirst-author’s address: Dongguan City Maternal & Child Health Hospital, Dongguan 523002, China
doi:10.3969/j.issn.1674-4985.2020.20.020
葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase deficiency,G6PD)缺乏症,俗称“蚕豆病”,为红细胞G6PD显著缺乏所导致的一种X连锁不完全显性遗传性溶血病,是一种最常见的遗传性酶缺陷病,全球范围内约4亿人受累 ......
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