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Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signaling
journal contribution
posted on 2023-06-08, 00:43 authored by Mark O'DriscollMark O'Driscoll, William B Dobyns, Johanna M van Hagen, Penny JeggoNo description supplied
History
Publication status
- Published
Journal
American Journal of Human GeneticsISSN
0002-9297Publisher
ElsevierExternal DOI
Issue
1Volume
81Page range
77-86Pages
10.0Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Notes
Corresponding author, originated idea that defective ATR-pathway function may be a feature of these disorders, developed assays, carried out cellular work. First description of defective DNA damage responses in BPES-ATR+/-, MDL and Williams syndrome.Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06Usage metrics
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