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OC 08.3 : Genetic Dissection of Structural Variants in the Largest Cohort of Patients with Antithrombin Deficiency and Characterisation of the First Complex Structural Variant in SERPINC1 by Long-read Whole Genome Sequencing

Researchers

Presenter

  • B. de la Morena-Barrio

Principal Investigators

  • J. Padilla

  • A. Sanchis-Juan

  • M.E. de la Morena-Barrio

  • J.L. Garca

  • J. Stephens

  • N. Borrs

  • A. Miano

  • R. Cifuentes

  • C. Bravo-Prez

  • F. Vidal

  • J.M. Hernandez-Rivas

  • W. Ouwehand

  • V. Vicente

  • J. Corral

Medical Centers

  • Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB‐Arrixaca, CB15/00055‐CIBERER, Murcia, Spain

  • Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB‐Arrixaca, CB15/00055‐CIBERER, Murcia, Spain

  • Department of Oncology, University of Cambridge, Cambridge, United Kingdom

  • NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, NHS Blood and Transplant Centre, Cambridge, United Kingdom

  • Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, Salamanca, Spain

  • Banc de Sang i Teixits; Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Catalonia, Spain

Locations

  • Spain

  • United Kingdom

Companies

  • N/A

Study Components

Therapeutic Area

  • N/A

Disease

  • N/A

Biomarkers

  • N/A

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Cohort

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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