Article
[Gene diagnosis of 3 haemophilia B families].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2008
Zhang Yuan, Yang Lin-Hua, Lu Ye-Ling, Ding Qiu-Lan, Wang Xue-Feng, Liu Xiu-E, Zhang Li
Abstract excerpt
OBJECTIVE: To explore factor IX gene mutations and molecular mechanism of haemophilia B in 3 unrelated families. METHODS: The activated partial thromboplastin time (APTT) and FIX activity (FIX: C) assay were used for phenotypic diagnosis. The STR loci gene polymorphisms for genetic linkage analysis in the patients and their family members were assayed. All of the 8 exons and the exon-intron boundaries of FIX gene...
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