Article
[Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Apr 2011
Hao Ying, Xu Zhi-yong, Jin Qing, Wu Wei-qing, Cai Jun, Luo Cai-qun, Xie Jian-sheng
Abstract excerpt
OBJECTIVE: To conduct molecular and prenatal diagnosis for a couple with β thalassemia. METHODS: Blood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis. RESULTS: The husband...
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