Application of a Molecular Diagnostic Algorithm for Haemophilia A and B Using Next-Generation Sequencing of Entire F8, F9 and VWF Genes
Jose Maria Bastida,Jose Ramon Gonzalez-Porras,Cristina Jimenez,Rocio Benito,Gonzalo R. Ordonez,Maria Teresa Alvarez-Romano,M. Elena Fontecha,Kamila Janusz,David Castillo,Rosa Maria Fisac,Luis Javier Garcia-Frade,Carlos Aguilar,Maria Paz Martinez,Nuria Bermejo,Sonia Herrero,Ana Balanzategui,Jose Manuel Martin-Antoran,Rafael Ramos,Maria Jose Cebeiro,Emilia Pardal,Carmen Aguilera, Belen Perez-Gutierrez, Manuel Prieto,Susana Riesco,Maria Carmen Mendoza,Ana Benito, Ana Hortal Benito-Sendin,Victor Jimenez-Yuste,Jesus Maria Hernandez-Rivas,Ramon Garcia-Sanz, Marcos Gonzalez-Dias,Maria Eugenia Sarasquete Thrombosis and haemostasis（2017）
关键词
Haemophilia A,haemophilia B,von Willebrand disease,molecular diagnosis,next-generation sequencing
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