DNA helicases in inherited human disorders

Research output: Contribution to journalArticle

113 Citations (Scopus)

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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DNA Helicases
Trichothiodystrophy Syndromes
Cockayne Syndrome
Bloom Syndrome
Werner Syndrome
Xeroderma Pigmentosum
Thalassemia
X Chromosome
Intellectual Disability
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

DNA helicases in inherited human disorders. / Ellis, Nathan.

In: Current Opinion in Genetics and Development, Vol. 7, No. 3, 06.1997, p. 354-363.

Research output: Contribution to journalArticle

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