Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome

Autor: Helm, Benjamin M., Smith, Amanda M., Schmit, Kelly., Landis, Benjamin J., Vatta, Matteo., Ware, Stephanie M.
Zdroj: In European Journal of Medical Genetics July 2023 66(7)
Databáze: ScienceDirect