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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Fahiminiya, Somayyeh; Oikonomopoulos, Spyros; Rivard, Georges-Etienne; Gandhi, Mira; Scott, Patrick; Montpetit, Alexandre; Chen, Shu-Huang; Park, KyungHee; Vezina, Catherine; Ragoussis, Jiannis; Carvalho, Claudia M B; Mitchell, Grant A; Soucy, Jean-Francois; Gauthier, Julie.
Affiliation
  • Fahiminiya S; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
  • Oikonomopoulos S; Division of Hematology-Oncology, Department of Pathology, Dalhousie University; Queen Elizabeth II Health Sciences Centre, Nova Scotia Health, Halifax, Nova Scotia, Canada.
  • Rivard GE; McGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Gandhi M; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
  • Scott P; Division of Hematology-Oncology, Department of Pediatrics, Université de Montréal, CHU Sainte-Justine, Montréal, Québec, Canada.
  • Montpetit A; Pacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
  • Chen SH; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montréal, Québec, Canada.
  • Park K; Centre d'expertise et de Services Génome Québec, Montréal, Québec, Canada.
  • Vezina C; McGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Ragoussis J; Pacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
  • Carvalho CMB; Montreal Children's Hospital, McGill University Health Center, Montréal, Québec, Canada.
  • Mitchell GA; McGill Genome Centre, Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Soucy JF; Department of Bioengineering, McGill University, Montréal, Québec, Canada.
  • Gauthier J; Pacific Northwest Research Institute (PNRI), Seattle, Washington, USA.
Haemophilia ; 29(3): 921-924, 2023 05.
Article in En | MEDLINE | ID: mdl-36897533
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hemophilia A Limits: Humans Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2023 Type: Article Affiliation country: Canada
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hemophilia A Limits: Humans Language: En Journal: Haemophilia Journal subject: HEMATOLOGIA Year: 2023 Type: Article Affiliation country: Canada