Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing

Human Molecular Genetics

Volumn 22, Issue 14, 2013, Pages 2881-2893

  Nonnekens, Julie ^a,b   Perez Fernandez, Jorge ^b,c   Theil, Arjan F ^d   Gadal, Olivier ^b,c   Bonnart, Chrystelle ^a,b   Giglia Mari, Giuseppina ^a,b  

^a INSTITUT DE PHARMACOLOGIE ET DE BIOLOGIE STRUCTURALE   (France)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c Université Paul Sabatier   (France)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE XPB; DNA DIRECTED RNA POLYMERASE; NUCLEAR PROTEIN; NUCLEAR PROTEIN CSB; RIBOSOME DNA; RIBOSOME RNA; RNA PRECURSOR; TRANSCRIPTION FACTOR IIH; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN; CONTROLLED STUDY; ENZYME BINDING; GENE MUTATION; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; NORTHERN BLOTTING; PRIORITY JOURNAL; PROTEIN HYDROLYSIS; PROTEIN SUBUNIT; RNA TRANSCRIPTION; TRANSCRIPTION ELONGATION; TRICHOTHIODYSTROPHY;

ANIMALS; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; RIBOSOMES; RNA POLYMERASE I; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, RIBOSOMAL; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION, GENETIC; TRICHOTHIODYSTROPHY SYNDROMES;

EID: 84880304868     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt143     Document Type: Article

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