Abstract
Several autosomal recessive diseases are associated with apparent DNA repair defects in cell culture. It seemed likely that a defect in excision repair reported for ataxia telangiectasia cells might reflect a lack of apurinic endonuclease activity. We report here normal levels of apurinic endonuclease activity in extracts of cell lines derived from patients with ataxia telangiectasia, xeroderma pigmentosum (complementation group D), Cockayne dwarfism, Fanconi anemia and Bloom syndrome.
Original language | English (US) |
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Pages (from-to) | 463-473 |
Number of pages | 11 |
Journal | Nucleic acids research |
Volume | 5 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1978 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics