Article
Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.
Molecular and cellular biology - 1 Jan 1994
Prigent C, Satoh M S, Daly G, Barnes D E, Lindahl T
Abstract excerpt
Two missense mutations in different alleles of the DNA ligase I gene have been described in a patient (46BR) with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. One of the mutant alleles produces an inactive protein, while the other encodes an enzyme with some residual a...
Topics
- Adenosine Monophosphate
- Base Sequence
- Cell Line
- DNA
- DNA Ligase ATP
- DNA Ligases
- DNA Repair
- DNA Replication
- Genetic Complementation Test
- Humans
- Immunologic Deficiency Syndromes
- Molecular Sequence Data
- Mutation