A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

O'Driscoll, Mark, Ruiz-Perez, Victor L, Woods, C Geoffrey, Jeggo, Penny A and Goodship, Judith A (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501. ISSN 1061-4036

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Item Type: Article
Additional Information: I originated the concept that defective ATR was a feature of Seckel syndrome and developed cellular assays to test this hypothesis (UV-induced phosphorylation of ATR-substrates such as H2AX, p53 and Rad17) using patient-derived primary fibroblasts. This also represents the first identification of the genetic defect in Seckel syndrome.
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Depositing User: Mark O'Driscoll
Date Deposited: 06 Feb 2012 18:30
Last Modified: 29 Mar 2012 11:21
URI: http://sro.sussex.ac.uk/id/eprint/16860
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