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首页> Scientific reports> Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.

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作者： Chunyun,Fu ^[1] ; Shiyu,Luo ^[2] ; Qifei,Li ^[1] ; Bobo,Xie ^[2] ; Qi,Yang ^[3] ; Guoxing,Geng ^[1] ; Caijuan,Lin ^[2] ; Jiasun,Su ^[1] ; Yue,Zhang ^[2] ; Jin,Wang ^[1] ; Zailong,Qin ^[2] ; Jingsi,Luo ^[1] ; Shaoke,Chen ^[2] ; Xin,Fan ^[1]

作者单位： Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, China. ^[1] Research Center for Guangxi Birth Defects Control and Prevention, Nanning, 530003, China. ^[2] Guangxi Huayin Medical Laboratory Center, Nanning, 530012, China. ^[3] Research Center for Guangxi Birth Defects Control and Prevention, Nanning, 530003, China. chenshaoke123@163.com. ^[4] Department of Pediatrics, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, China. chenshaoke123@163.com. ^[5] Department of Genetic Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, China. fanxin602@163.com. ^[6] Research Center for Guangxi Birth Defects Control and Prevention, Nanning, 530003, China. fanxin602@163.com. ^[7]

主题词等位基因(Alleles);中国(China);DNA突变分析(DNA Mutational Analysis);判别分析(Discriminant Analysis);酶测定(Enzyme Assays);女(雌)性(Female);基因频率(Gene Frequency);葡糖磷酸脱氢酶(Glucosephosphate Dehydrogenase);葡糖磷酸脱氢酶缺乏(Glucosephosphate Dehydrogenase Deficiency);杂合子(Heterozygote);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);新生儿筛查(Neonatal Screening);多态现象, 遗传(Polymorphism, Genetic);敏感性与特异性(Sensitivity and Specificity)

DOI 10.1038/s41598-017-17667-6

PMID 29339739

发布时间 2019-01-16

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Scientific reports

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2018年8卷1期

833页

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