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Article

Chromosome instability and nibrin protein variants in NBS heterozygotes.

European journal of human genetics : EJHG - 1 Apr 2003

Tanzanella Caterina, Antoccia Antonio, Spadoni Emanuela, di Masi Alessandra, Pecile Vanna, Demori Eliana, Varon Raymonda, Marseglia Gian Luigi, Tiepolo Luciano, Maraschio Paola

Abstract excerpt

The frequency of spontaneous chromosome abnormalities in peripheral blood lymphocytes and the X-ray G2 sensitivity in lymphoblastoid cell lines (LCL) have been evaluated in heterozygous subjects from three unrelated Nijmegen Breakage Syndrome (NBS) families, characterised by different mutations in the NBS1 gene. In all the 13 NBS heterozygotes analysed, we found spontaneous chromosome instability consisting in...

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PMID: 12708449
DOI: 10.1038/sj.ejhg.5200962

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