Article
DNA ligase I deficiency in Bloom's syndrome.
Nature - 1 Jan 2000
Willis A E, Lindahl T
Abstract excerpt
Certain rare human diseases with autosomal recessive mode of inheritance are associated with a greatly increased cancer frequency which may reflect specific defects in DNA repair or replication. These disorders include xeroderma pigmentosum, ataxia-telangiectasia, Fanconi's anaemia and Bloom's syndrome. Cells from individuals with Bloom's syndrome usually grow slowly in culture and exhibit increased chromosomal...
Topics
- Bloom Syndrome
- Cell Line
- DNA Ligases
- DNA Repair
- DNA Replication
- Hot Temperature
- Humans
- Lymphocytes
- Mutation
- Polynucleotide Ligases
- Protein Conformation