DNA helicases in inherited human disorders
NA Ellis - Current opinion in genetics & development, 1997 - Elsevier
Current opinion in genetics & development, 1997•Elsevier
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.
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.
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.
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