DNA helicases in inherited human disorders.
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.
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Laboratory of Human Genetics, New York Blood Center, New York 10021, USA.
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
D014157:Transcription Factors; D004265:DNA Helicases