Mutations in Pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalling

Expansion of the brain is one of the defining characteristics of modern humans. Seckel syndrome (MIM210600), a disorder of markedly reduced brain and body size1,2, is associated with defective ATR-dependant DNA damage signalling3. Previously, only a single hypomorphic mutation of ATR has been identi...

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Hauptverfasser: Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Al Sanna, Nouriya, Saggar, Anand, Hamel, Ben, Earnshaw, William C., Jeggo, Penny A., Jackson, Andrew P., O'Driscoll, Mark
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2397541/
https://ncbi.nlm.nih.gov/pubmed/18157127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2007.80
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