// App-Quantinova.ai

P1.114 : A case of LGMD2A caused by a novel splice site mutation identified by RNA-seq (P1.114)

Researchers

Presenter

  • Stefan Nicolau

Principal Investigators

  • Martine Tetreault

  • Karine Choquet

  • Yi-Hong Shao

  • Bernard Brais

  • Jason Karamchandani

  • Erin K. OFerrall

Medical Centers

  • Department of Paediatrics, McGill University, Montreal, Canada

  • Department of Pathology, Montreal Neurological Institute, McGill University Montreal QC Canada

  • 1Department of Neurology and Neurosurgery Montreal QC Canada

  • McGill University and Genome Quebec Innovation Centre, Montreal, Canada

Locations

  • Canada

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

  • Musculoskeletal

Disease

  • N/A

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

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