Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ

OBJECTIVE: To address the relationship between novel mutations in polynucleotide 5'-kinase 3'-phosphatase (PNKP), DNA strand break repair, and neurologic disease. METHODS: We have employed whole-exome sequencing, Sanger sequencing, and molecular/cellular biology. RESULTS: We describe here...

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Publicado no:Neurol Genet
Main Authors: Kalasova, Ilona, Hanzlikova, Hana, Gupta, Neerja, Li, Yun, Altmüller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Gökhan, Caldecott, Keith W.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454307/
https://ncbi.nlm.nih.gov/pubmed/31041400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000320
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