范科尼贫血
多重连接依赖探针扩增
范卡
FANCD2
突变
人口
基因检测
医学
产前诊断
遗传学
基因
生物
DNA修复
胎儿
环境卫生
怀孕
外显子
作者
Giti Esmail Nia,Mahsa Fadaee,Robert E. Royer,Hossein Najmabadi,Mohammad R. Akbari
出处
期刊:PubMed
日期:2016-04-01
卷期号:19 (4): 236-40
被引量:14
摘要
Genetic testing for FA patients improves the accuracy of diagnosis and also will be essential for genetic counselling and prenatal diagnosis for future pregnancies in the family. Availability of NGS technology has made the screening of all known FA genes at once more practical and affordable.
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