Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Por Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio A
Publicado no Hum Mutat (2015)

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QO(Madrid)

Por Lara, Beatriz, Martínez, Maria Teresa, Blanco, Ignacio, Hernández-Moro, Cristina, Velasco, Eladio A, Ferrarotti, Ilaria, Rodriguez-Frias, Francisco, Perez, Laura, Vazquez, Irene, Alonso, Javier, Posada, Manuel, Martínez-Delgado, Beatriz
Publicado em 2014