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: Identification of New Deep Intronic Variants Causing Hemophilia A by Whole F8 Gene Sequencing, mRNA Analysis and Functional Confirmation, in “Variant‐Negative” French and Canadian Patients

Researchers

Presenter

  • F. Lassalle

Principal Investigators

  • L. Jouan

  • Y. Jourdy

  • L. Swystun

  • J. Gauthier

  • C. Zawadzki

  • J. Goudemand

  • S. Susen

  • G.-E. Rivard

  • D. Lillicrap

Medical Centers

  • Lille University Hospital, Department of Hematology and Transfusion, Lille, France

  • Sainte‐Justine University Hospital, Integrated Centre for Pediatric Clinical Genomics, Montreal, Canada

  • Hospices Civils de Lyon, Department of Ophthalmology, Lyon, France

  • Queen's University, Department of Pathology and Molecular Medicine, Kingston, ON, Canada

  • Sainte‐Justine University Hospital, Department of Pediatrics, Montreal, Canada

  • Sainte‐Justine University Hospital, Department of Hematology and Oncology, Montreal, Canada

Locations

  • France

  • Canada

Companies

  • N/A

Study Components

Therapeutic Area

  • Blood/haematological Diseases

Disease

  • Hemophilia

Biomarkers

  • N/A

Drug/Treatment

  • N/A

Outcome

  • N/A


Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A