View in EDS

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

Saved in:
Bibliographic Details
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; Research Support, Non-U.S. Gov't
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
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39019441
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Sacco+M%22">Sacco M</searchLink>; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Testa+MF%22">Testa MF</searchLink>; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Ferretti+A%22">Ferretti A</searchLink>; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Basso+M%22">Basso M</searchLink>; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Lancellotti+S%22">Lancellotti S</searchLink>; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tardugno+M%22">Tardugno M</searchLink>; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Gennaro+L%22">Di Gennaro L</searchLink>; Center for Hemorrhagic and Thrombotic Diseases, Foundation University Hospital 'A. Gemelli' IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Concolino+P%22">Concolino P</searchLink>; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Minucci+A%22">Minucci A</searchLink>; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Spoliti+C%22">Spoliti C</searchLink>; Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Branchini+A%22">Branchini A</searchLink>; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy. Electronic address: brnlss@unife.it.<br /><searchLink fieldCode="AU" term="%22De+Cristofaro+R%22">De Cristofaro R</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101170508%22">Journal of thrombosis and haemostasis : JTH</searchLink> [J Thromb Haemost] 2024 Oct; Vol. 22 (10), pp. 2724-2738. <i>Date of Electronic Publication: </i>2024 Jul 15.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101170508 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1538-7836 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215387836%22">15387836 </searchLink><i>NLM ISO Abbreviation: </i>J Thromb Haemost <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39019441
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.jtha.2024.07.008
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2724
    Titles:
      – TitleFull: An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Sacco M
      – PersonEntity:
          Name:
            NameFull: Testa MF
      – PersonEntity:
          Name:
            NameFull: Ferretti A
      – PersonEntity:
          Name:
            NameFull: Basso M
      – PersonEntity:
          Name:
            NameFull: Lancellotti S
      – PersonEntity:
          Name:
            NameFull: Tardugno M
      – PersonEntity:
          Name:
            NameFull: Di Gennaro L
      – PersonEntity:
          Name:
            NameFull: Concolino P
      – PersonEntity:
          Name:
            NameFull: Minucci A
      – PersonEntity:
          Name:
            NameFull: Spoliti C
      – PersonEntity:
          Name:
            NameFull: Branchini A
      – PersonEntity:
          Name:
            NameFull: De Cristofaro R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2024 Oct
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1538-7836
          Numbering:
            – Type: volume
              Value: 22
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Journal of thrombosis and haemostasis : JTH
              Type: main
ResultId 1