Article
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Thrombosis and haemostasis - 1 Jan 2013
Radic Claudia Pamela, Rossetti Liliana Carmen, Abelleyro Miguel Martín, Candela Miguel, Pérez Bianco Raúl, de Tezanos Pinto Miguel, Larripa Irene Beatriz, Goodeve Anne, De Brasi Carlos Daniel
Abstract excerpt
In haemophilia B (HB) (factor IX [FIX] deficiency), F9 genotype largely determines clinical phenotype. Aimed to characterise Argentinian families with HB, this study presents F9 genotype frequencies and their specific FIX inhibitor risk and 10 novel F9 mutations. Ninety-one DNA samples from HB patients and relatives were subjected to a new scheme: a primary screen for large deletions, a secondary screen for...
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