Article
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
Molecular cell - 1 Jun 1998
de Boer J, de Wit J, van Steeg H, Berg R J, Morreau H, Visser P, Lehmann A R, Duran M, Hoeijmakers J H, Weeda G
Abstract excerpt
The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. The phenotype is hypothesized to be in part derived from a nucleotide excision repair defect and in part from a subtle basal transcription deficiency accounting for...
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