微细胞增多
先证者
地中海贫血
遗传学
医学
复合杂合度
中国家庭
突变
桑格测序
儿科
贫血
内科学
生物
基因
缺铁
作者
Wang-Qiang Li,L T Chen,Y Yu,J Wang,C Y Li,T E Cai,C J Lu,Dan-Yang Li,X J Tian
出处
期刊:PubMed
[National Institutes of Health]
日期:2023-02-06
卷期号:57 (2): 253-258
被引量:1
标识
DOI:10.3760/cma.j.cn112150-20220818-00823
摘要
) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.
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