Article
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
Haematologica - 1 Jun 2007
Rossetti Liliana C, Radic Claudia Pamela, Candela Miguel, Pérez Bianco Raúl, de Tezanos Pinto Miguel, Goodeve Anne, Larripa Irene B, De Brasi Carlos D
Abstract excerpt
Hemophilia A (HA) is caused by heterogeneous mutations in the factor VIII gene (F8). This paper reports 16 novel small F8-mutations and rearrangements in a series of 80 Argentinian families with severe-HA. Using an updated scheme for F8-analysis, we found 37 F8-inversions (46%), 10 large deletions (13%), 13 small ins/del (16%), 7 nonsense (9%) and 8 missense mutations (10%), including 4 new ones (p.T233K,...
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