Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

Nature Genetics

Volumn 26, Issue 3, 2000, Pages 307-313

  Vermeulen, Wim ^a   Bergmann, Etienne ^b   Auriol, Jérôme ^b   Rademakers, Suzanne ^a   Frit, Philippe ^b   Appeldoorn, Esther ^a   Hoeijmakers, Jan H J ^a   Egly, Jean Marc ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HELICASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR IIH; UNCLASSIFIED DRUG;

ARTICLE; DNA REPAIR; EXCISION REPAIR; GENE MUTATION; HUMAN; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; PHENOTYPE; PRIORITY JOURNAL; TRANSCRIPTION REGULATION; TRICHOTHIODYSTROPHY;

ABNORMALITIES, MULTIPLE; CELL LINE, TRANSFORMED; COCKAYNE SYNDROME; CYSTEINE ENDOPEPTIDASES; DNA DAMAGE; DNA HELICASES; DNA REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; GENETIC HETEROGENEITY; HAIR DISEASES; HELA CELLS; HUMANS; MACROMOLECULAR SUBSTANCES; MULTIENZYME COMPLEXES; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN SUBUNITS; PROTEINS; SKIN DISEASES; SYNDROME; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; TRANSCRIPTION, GENETIC; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0033768176     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/81603     Document Type: Article

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