PARP10 deficiency manifests by severe developmental delay and DNA repair defect

Volume: 17, Issue: 4, Pages: 227 - 232
Published: Sep 13, 2016
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
Volume
17
Issue
4
Pages
227 - 232
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