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A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
Fahiminiya, Somayyeh; Rivard, Georges-Etienne; Scott, Patrick; Montpetit, Alexandre; Bacot, François; St-Louis, Jean; Mitchell, Grant A; Foulkes, William D; Soucy, Jean-Francois; Gauthier, Julie.
Afiliação
  • Fahiminiya S; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, Québec, Canada.
  • Rivard GE; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
  • Scott P; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, Québec, Canada.
  • Montpetit A; Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
  • Bacot F; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, Québec, Canada.
  • St-Louis J; Centre d'expertise et de services Génome Québec, Montreal, Québec, Canada.
  • Mitchell GA; Centre d'expertise et de services Génome Québec, Montreal, Québec, Canada.
  • Foulkes WD; Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
  • Soucy JF; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, Québec, Canada.
  • Gauthier J; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
Haemophilia ; 27(5): e638-e640, 2021 Sep.
Article em En | MEDLINE | ID: mdl-34232555

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator VIII / Hemofilia A Limite: Humans Idioma: En Revista: Haemophilia Assunto da revista: HEMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator VIII / Hemofilia A Limite: Humans Idioma: En Revista: Haemophilia Assunto da revista: HEMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá