Abstract
Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and α-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA manipulation that are defective in these syndromes.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 354-363 |
| Number of pages | 10 |
| Journal | Current Opinion in Genetics and Development |
| Volume | 7 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 1997 |
| Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Developmental Biology