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Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair

27 Apr 2007

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited multisystem disorder affecting both physical and mental development. Heterozygous mutations in the NIPBL gene were found in about half of CdLS cases. Scc2, the fungal ortholog of the NIPBL gene product, is essential for establishing sister chromatid cohesion. In yeast, the absence of cohesion leads to chromosome mis-segregation and defective repair...

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PMID: 17468178
DOI: 10.1093/hmg/ddm098

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