Open AccessBiallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility
Author(s) -
Carolina Villarroya-Beltrí,
Ana Osorio,
Raúl Torres-Ruíz,
David Gómez-Sánchez,
Marianna Trakala,
Agustin Sánchez-Belmonte,
Fátima Mercadillo,
Begoña Hurtado,
Borja Pitarch,
A. HernándezNúñez,
Antonio Gómez-Caturla,
Daniel Rueda,
José Perea,
Sandra Rodríguez-Perales,
Marcos Malumbres,
Miguel Urioste
Publication year - 2022
Publication title -
science advances
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.928
H-Index - 146
ISSN - 2375-2548
DOI - 10.1126/sciadv.abq5914
Subject(s) - aneuploidy , biology , germline , chromosome instability , point mutation , mutation , cancer research , genetics , germline mutation , transcriptome , chromosome , gene , gene expression