Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality

The ten-subunit transcription factor IIH (TFIIH) plays a crucial role in transcription and nucleotide excision repair (NER). Inactivating mutations in the smallest 8-kDa TFB5/TTDA subunit cause the neurodevelopmental progeroid repair syndrome trichothiodystrophy A (TTD-A). Previous studies have show...

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Autors principals: Theil, Arjan F., Nonnekens, Julie, Steurer, Barbara, Mari, Pierre-Olivier, de Wit, Jan, Lemaitre, Charlène, Marteijn, Jurgen A., Raams, Anja, Maas, Alex, Vermeij, Marcel, Essers, Jeroen, Hoeijmakers, Jan H. J., Giglia-Mari, Giuseppina, Vermeulen, Wim
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3630102/
https://ncbi.nlm.nih.gov/pubmed/23637614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003431
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