Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
James D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, Gorka R de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C Ayoub, Kumar Lal, Olufunmilayo I Olopade, Ana Vega, Marta Santamariña, Ana Blanco, Barbara Wappenschmidt, Alexandra Becker, Claude Houdayer, Logan C Walker, Irene López-Perolio, Mads Thomassen, Michael Parsons, Phillip Whiley, Marinus J Blok, Rita D Brandão, Demis Tserpelis, Diana Baralle, Gemma Montalban, Sara Gutiérrez-Enríquez, Orland Díez, Conxi Lazaro, kConFaB Investigators, Amanda B Spurdle, Paolo Radice, Miguel de la Hoya
Journal of Medical Genetics Aug 2016, 53 (8) 548-558; DOI: 10.1136/jmedgenet-2015-103570