Article
Characterization of large deletions in the F8 gene using multiple competitive amplification and the genome walking technique.
Journal of thrombosis and haemostasis : JTH - 1 Jun 2013
You G L, Ding Q L, Lu Y L, Dai J, Xi X D, Wang X F, Wang H L
Abstract excerpt
BACKGROUND: Large deletions in the F8 gene are responsible for approximately 3% of severe hemophilia A (HA) cases. However, only a few breakpoints in large deletions have been characterized. OBJECTIVES: To identify large deletions in the F8 gene and to characterize the molecular mechanisms leading to these deletions. PATIENTS AND METHODS: We used AccuCopy technology, a copy number variation (CNV) genotyping...
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