DNA repair: the Nijmegen breakage syndrome protein.
The gene mutated in Nijmegen breakage syndrome, a chromosome instability disorder, has been identified and sequenced. The protein product of this gene forms a complex with hMre11 and hRad50--proteins that are involved in repairing double-strand breaks in DNA.
Featherstone
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Wellcome/Cancer Research Campaign Institute, Cambridge University, UK.
Jackson
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D000015:Abnormalities, Multiple / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000502:physiology*; D019457:Chromosome Breakage; D004260:DNA Repair / Q000502:physiology*; D006801:Humans; D009687:Nuclear Proteins; D013577:Syndrome
D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins