Article
Characterisation and quantification of F8 transcripts of ten putative splice site mutations.
Thrombosis and haemostasis - 1 Mar 2015
Liang Qian, Xiang Mingjie, Lu Yeling, Ruan Yufeng, Ding Qiulan, Wang Xuefeng, Xi Xiaodong, Wang Hongli
Abstract excerpt
Mutations affecting splice sites comprise approximately 7.5 % of the known F8 gene mutations but only a few were verified at mRNA level. In the present study, 10 putative splice site mutations were characterised by mRNA analysis using reverse transcription PCR (RT-PCR). Quantitative real-time RT-PCR (RT-qPCR) and co-amplification fluorescent PCR were used in combination to quantify the amount of each of multiple...
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