Article
Detection of known haemophilia B mutations and carrier testing by microarray.
Thrombosis and haemostasis - 1 Oct 2005
Chan Kaimin, Sasanakul W, Mellars Gillian, Chuansumrit Ampaiwan, Perry D, Lee Christine A, Wong Man-Sim, Chan Tai-Kwong, Chan Vivian
Abstract excerpt
The molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This technology overcomes the problem of multiple reverse dot-blot analysis and has a 100% accuracy in...
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