DNA helicases in inherited human disorders

Research output: Contribution to journalArticlepeer-review

115 Scopus citations


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 languageEnglish (US)
Pages (from-to)354-363
Number of pages10
JournalCurrent Opinion in Genetics and Development
Issue number3
StatePublished - Jun 1997

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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