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

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Authors: Ilona Kalasova, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, Keith W. Caldecott

Journal title: Neurology Genetics

Journal number: 5/2

Journal publisher: Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology

Published year: 2019

Published pages: e320

DOI identifier: 10.1212/nxg.0000000000000320

ISSN: 2376-7839