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

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Title: An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.
Authors: Sacco M; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy., Testa MF; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy., Ferretti A; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy., Basso M; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy., Lancellotti S; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy., Tardugno M; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy., Di Gennaro L; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy., Concolino P; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Minucci A; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Spoliti C; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy., Branchini A; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy. Electronic address: brnlss@unife.it., De Cristofaro R; 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.
Source: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2024 Oct; Vol. 22 (10), pp. 2724-2738. Date of Electronic Publication: 2024 Jul 15.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1538-7836
DOI:10.1016/j.jtha.2024.07.008