Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells
Maria Andrianova(Lomonosov Moscow State University), Laura Valle(Institut d'Investigació Biomédica de Bellvitge), Georgii A. Bazykin(Lomonosov Moscow State University), Gemma Aiza(Institut d'Investigació Biomédica de Bellvitge), Ana Beatriz Sánchez‐Heras(Hospital General Universitario de Elche), Fyodor A. Kondrashov(Okinawa Institute of Science and Technology Graduate University), Pilar Mur(Institut d'Investigació Biomédica de Bellvitge), Vladimir B. Seplyarskiy(Brigham and Women's Hospital), Mariona Terradas(Universitat Autònoma de Barcelona), José Luis Soto(Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana), Alexey S. Kondrashov(Lomonosov Moscow State University)
Cited by 7
Related Papers
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
|Nature Genetics|2016|495
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
|Genetics in Medicine|2015|265
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
|Genome Research|2016|183
Genetic activities in micronuclei: Is the DNA entrapped in micronuclei lost for the cell?
|Mutation Research/Reviews in Mutation Research|2010|148