title: DNA helicases in inherited human disorders.
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.
authors.affiliation: Laboratory of Human Genetics, New York Blood Center, New York 10021, USA.
authors.forename: N A
authors.initials: NA
authors.lastname: Ellis
mesh_terms: D000595:Amino Acid Sequence; D004265:DNA Helicases / Q000235:genetics*; D004260:DNA Repair; D005786:Gene Expression Regulation; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D014157:Transcription Factors
chemical_list: D014157:Transcription Factors; D004265:DNA Helicases