Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / genetics*
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Cell Cycle Proteins / physiology*
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Chromosome Breakage*
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DNA Repair / physiology*
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Humans
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Nuclear Proteins*
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Syndrome
Substances
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Cell Cycle Proteins
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NBN protein, human
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Nuclear Proteins