DNA helicases in inherited human disorders

Research output: Contribution to journalArticle

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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 languageEnglish (US)
Pages (from-to)354-363
Number of pages10
JournalCurrent Opinion in Genetics and Development
Volume7
Issue number3
DOIs
StatePublished - Jun 1997
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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