DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Human Mutation

Volumn 9, Issue 6, 1997, Pages 519-525

  Takayama, Kyoko ^a   Danks, David M ^b   Salazar, Edmund P ^a   Cleaver, James E ^c   Weber, Christine A ^a  

^a LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

DNA repair; ERCC2; Mutations; Trichothiodystrophy; XPD

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; DNA REPAIR; DNA SEQUENCE; DNA TRANSCRIPTION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; TRICHOTHIODYSTROPHY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; DNA HELICASES; DNA PRIMERS; DNA REPAIR; DNA-BINDING PROTEINS; FACE; GROWTH DISORDERS; HAIR; HAIR DISEASES; HUMANS; ICHTHYOSIS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; TRANSCRIPTION FACTORS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0030945874     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X     Document Type: Article

References (5)

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2. Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR (1994) Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy. Nature Genet 7:189-194.
3. Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JHJ, Botta E, Stefanini M, King MD, Weber CA, Cole J, Arlett CF, Lehmann AR (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet 56:167-174.
4. Cleaver JE, Volpe JPG, Charles WC, Thomas GH (1994) Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. Prenat Diagn 14:921-928.
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