Article
[Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2005
Xu Xiu-cai, Zhou Rong-fu, Wu Jing-sheng, Fang Yi, Wang Xue-feng, Zhai Zhi-min, Wang Hong-li
Abstract excerpt
OBJECTIVE: To identify the fibrinogen (Fg) gene mutations in a Chinese pedigree of congenital afibrinogenemia. METHODS: The plasma Fg activity and protein of the proband and his family members were detected. Genomic DNA was isolated from the peripheral blood mononuclear cells. All the exons and exon-intron boundaries of fibrinogen gene were amplified by PCR and sequenced thereafter. RESULTS: Two mutations, 7972...
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