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

Mandibular hypoplasia, Deafness and Progeroid features with concomitant Lipodystrophy define a rare systemic disorder, named MDPL Syndrome, due to almost always a de novo variant in POLD1 gene, encoding the DNA polymerase δ. We report a MDPL female heterozygote for the recurrent p.Ser605del variant....

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Detalles Bibliográficos
Autores principales: Murdocca, Michela, Spitalieri, Paola, De Masi, Claudia, Udroiu, Ion, Marinaccio, Jessica, Sanchez, Massimo, Talarico, Rosa Valentina, Fiorillo, Chiara, D’Adamo, Monica, Sbraccia, Paolo, D’Apice, Maria Rosaria, Novelli, Giuseppe, Sgura, Antonella, Sangiuolo, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7950258/
https://www.ncbi.nlm.nih.gov/pubmed/33618333
http://dx.doi.org/10.18632/aging.202680

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