Article
The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.
Biochemical and biophysical research communications - 9 May 2008
di Masi Alessandra, Viganotti Mara, Polticelli Fabio, Ascenzi Paolo, Tanzarella Caterina, Antoccia Antonio
Abstract excerpt
Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by chromosomal instability and hypersensitivity to ionising radiation. Compound heterozygous 657del5/R215W NBS patients display a clinical phenotype more severe than the majority of NBS patients homozygous for the 657del5 mutation. The NBS1 protein, mutated in NBS patients, contains a FHA/BRCT domain necessary for the DNA-double strand break...
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