Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser

Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano EF, Jiménez-Yuste V. Thromb Haemost. 2010 Oct;104(4):718-23. Epub 2010 Jul 20