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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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Detalles Bibliográficos
Autores principales:	Kalasova, Ilona, Hanzlikova, Hana, Gupta, Neerja, Li, Yun, Altmüller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Gökhan, Caldecott, Keith W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454307/ https://www.ncbi.nlm.nih.gov/pubmed/31041400 http://dx.doi.org/10.1212/NXG.0000000000000320

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