TY  - JOUR
AU  - Villarroya-Beltri, Carolina
AU  - Osorio, Ana
AU  - Torres-Ruiz, Raúl
AU  - Gómez-Sánchez, David
AU  - Trakala, Marianna
AU  - Sánchez-Belmonte, Agustin
AU  - Mercadillo, Fátima
AU  - Hurtado, Begoña
AU  - Pitarch, Borja
AU  - Hernández-Núñez, Almudena
AU  - Gómez-Caturla, Antonio
AU  - Rueda, Daniel
AU  - Perea, José
AU  - Rodriguez Perales, Sandra
AU  - Malumbres, Marcos
AU  - Urioste, Miguel
PY  - 2022
DO  - 10.1126/sciadv.abq5914
UR  - http://hdl.handle.net/20.500.12105/18962
AB  - Germline mutations leading to aneuploidy are rare, and their tumor-promoting properties are mostly unknown at the molecular level. We report here novel germline biallelic mutations in MAD1L1, encoding the spindle assembly checkpoint (SAC) protein...
LA  - eng
PB  - American Association for the Advancement of Science (AAAS)
TI  - Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.
TY  - journal article
ER  -