PARP10 deficiency manifests by severe developmental delay and DNA repair defect
Abstract
DNA repair mechanisms such as nucleotide excision repair (NER) and translesion synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegeneration and impaired NER. Using exome sequencing, we identified a homozygous deleterious mutation, c.648delAG, in the PARP10 gene, in a patient suffering...
Paper Details
Title
PARP10 deficiency manifests by severe developmental delay and DNA repair defect
Published Date
Sep 13, 2016
Journal
Volume
17
Issue
4
Pages
227 - 232
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