Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

Author:

Murdocca Michela1,Spitalieri Paola1,De Masi Claudia1,Udroiu Ion2,Marinaccio Jessica2,Sanchez Massimo3,Talarico Rosa Valentina1,Fiorillo Chiara4,D’Adamo Monica5,Sbraccia Paolo5,D’Apice Maria Rosaria6,Novelli Giuseppe16,Sgura Antonella2,Sangiuolo Federica16

Affiliation:

1. Department of Biomedicine and Prevention, Tor Vergata University, Rome 00133, Italy

2. Department of Science, “Roma Tre” University, Rome 00154, Italy

3. Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy

4. Paediatric Neurology and Neuromuscular Disorders, University of Genoa and Istituto Gaslini, Genoa 16147, Italy

5. Department of Systems Medicine, Tor Vergata University, Rome 00133, Italy

6. Laboratory of Medical Genetics, Tor Vergata Hospital, Rome 00133, Italy

Publisher

Impact Journals, LLC

Subject

Cell Biology,Aging

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