DNA helicases in inherited human disorders - PubMed (original) (raw)

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DNA helicases in inherited human disorders

N A Ellis. Curr Opin Genet Dev. 1997 Jun.

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.

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