An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.

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作者： Monica,Sacco ^[1] ; Maria Francesca,Testa ^[2] ; Antonietta,Ferretti ^[3] ; Maria,Basso ^[3] ; Stefano,Lancellotti ^[3] ; Maira,Tardugno ^[1] ; Leonardo,Di Gennaro ^[3] ; Paola,Concolino ^[4] ; Angelo,Minucci ^[4] ; Claudia,Spoliti ^[1] ; Alessio,Branchini ^[5] ; Raimondo,De Cristofaro ^[6]

作者单位： Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy. ^[1] Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy. ^[2] Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital "A. Gemelli" IRCCS, Rome, Italy. ^[3] Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. ^[4] Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy. Electronic address: brnlss@unife.it. ^[5] Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital "A. Gemelli" IRCCS, Rome, Italy. Electronic address: raimondo.decristofaro@unicatt.it. ^[6]

关键词 genotype–phenotype association hemophilia B missense mutation molecular models prediction tools