Article
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
Pathology - 1 Jun 2012
Yu Tingting, Dai Jing, Liu Hongjing, Ding Qiulan, Lu Yelin, Wang Hongli, Wang Xuefeng, Fu Qihua
Abstract excerpt
AIMS: Haemophilia B (HB) is an X-linked recessive haemorrhagic disorder caused by F9 mutations. In this study, we performed molecular analysis of 107 Chinese HB patients and analysed the F9 mutation spectrum of Chinese HB patients. METHODS: 107 Chinese HB patients were enrolled in this study. Direct sequencing of the whole F9 or mutation scanning of exon 1 to exon 7 by high resolution melting (HRM) curve analysis...
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