Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. [electronic resource]
- Cell May 1998
- 467-76 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0092-8674
10.1016/s0092-8674(00)81174-5 doi
Amino Acid Sequence Base Sequence Cell Cycle Proteins--genetics Chromosome Aberrations--genetics Chromosome Breakage--genetics Chromosome Disorders Chromosome Mapping Chromosomes, Human, Pair 8--genetics Cloning, Molecular--methods DNA Damage DNA Repair Female Founder Effect Genes, Recessive--genetics Humans Linkage Disequilibrium Male Microcephaly--genetics Molecular Sequence Data Nuclear Proteins RNA, Messenger--analysis Sequence Analysis, DNA Sequence Deletion--genetics Sequence Homology, Amino Acid Syndrome