A full molecular picture of F8 intron 1 inversion created with optical genome mapping

Haemophilia. 2021 Sep;27(5):e638-e640. doi: 10.1111/hae.14375. Epub 2021 Jul 7.

Authors

Somayyeh Fahiminiya^{1

2}, Georges-Etienne Rivard^{1

3}, Patrick Scott¹, Alexandre Montpetit⁴, François Bacot⁴, Jean St-Louis³, Grant A Mitchell^{1

2}, William D Foulkes⁵, Jean-Francois Soucy^{1

2}, Julie Gauthier^{1

2}

Affiliations

¹ Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, Québec, Canada.
² Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
³ Division of Hematology-Oncology, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Québec, Canada.
⁴ Centre d'expertise et de services Génome Québec, Montreal, Québec, Canada.
⁵ Department of Human Genetics, McGill University, Montreal, Québec, Canada.

PMID: 34232555
DOI: 10.1111/hae.14375

No abstract available

Publication types

Letter

MeSH terms

Chromosome Inversion
Chromosome Mapping
Factor VIII* / genetics
Hemophilia A* / genetics
Humans
Introns / genetics

Substances

Factor VIII