Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.

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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Main Authors: Arjan F Theil, Julie Nonnekens, Barbara Steurer, Pierre-Olivier Mari, Jan de Wit, Charlène Lemaitre, Jurgen A Marteijn, Anja Raams, Alex Maas, Marcel Vermeij, Jeroen Essers, Jan H J Hoeijmakers, Giuseppina Giglia-Mari, Wim Vermeulen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-04-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003431&type=printable
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https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003431&type=printable

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