Article
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
Haematologica - 1 May 2008
Margaglione Maurizio, Castaman Giancarlo, Morfini Massimo, Rocino Angiola, Santagostino Elena, Tagariello Giuseppe, Tagliaferri Anna Rita, Zanon Ezio, Bicocchi Maria Patrizia, Castaldo Giuseppe, Peyvandi Flora, Santacroce Rosa, Torricelli Francesca, Grandone Elvira, Mannucci Pier Mannuccio
Abstract excerpt
BACKGROUND: The high mutational heterogeneity of hemophilia A is a challenge for the provision of genetic services. We plan to identify the mutation in patients with hemophilia A in order to create a confidential national database of mutations for the optimization of genetic services in Italy. DESIGN AND METHODS: The factor VIII gene (F8) was analyzed in 1296 unrelated patients with hemophilia A using screening...
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