Murdocca M, Spitalieri P, De Masi C, Udroiu I, Marinaccio J, Sanchez M, Talarico RV, Fiorillo C, D'Adamo M, Sbraccia P, D'Apice MR, Novelli G, Sgura A, Sangiuolo F
Title
Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.
Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I
Title
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.