Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
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DOI: 10.1371/journal.pone.0216179
Abstract: Mutations are not identified in ~5% of hemophilia A and 10–35% of type 1 VWD patients. The bleeding tendency also varies among patients carrying the same causative mutation, potentially indicating variants in additional genes modifying… read more here.
Keywords: mutation; reference alleles; ion torrent;