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) |
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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