Llwytho...

Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta

Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP). In this study, we tested the hypothesis that mutations in the XPD gene affect pla...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Moslehi, Roxana, Kumar, Anil, Mills, James L, Ambroggio, Xavier, Signore, Caroline, Dzutsev, Amiran
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2012
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355251/
https://ncbi.nlm.nih.gov/pubmed/22234153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.249
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