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DNA helicases in inherited human disorders
1Laboratory of Human Genetics, New York Blood Center, New York 10021, USA.
Current Opinion in Genetics & Development
|June 1, 1997
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 alpha-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.