Article
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
Human molecular genetics - 1 Sept 1997
Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M
Abstract excerpt
Bloom's syndrome (BS), a human recessive disorder associated with an increased risk of malignancy, arises through mutations in both alleles of the BLM gene, which was recently identified as a member of the RecQ helicase family. BS cells are characterized by an increased rate of sister chromatid e...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Antigens, Neoplasm
- Bloom Syndrome
- DNA Helicases
- DNA Topoisomerases, Type II
- DNA-Binding Proteins
- Humans
- Isoenzymes
- Molecular Sequence Data
- Mutation
- RecQ Helicases
- Sequence Alignment