Article
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Environmental and molecular mutagenesis - 1 Aug 2012
Falik-Zaccai Tzipora C, Erel-Segal Reut, Horev Liran, Bitterman-Deutsch Ora, Koka Sivan, Chaim Sara, Keren Zohar, Kalfon Limor, Gross Bella, Segal Zvi, Orgal Shlomi, Shoval Yishay, Slor Hanoch, Spivak Graciela, Hanawalt Philip C
Abstract excerpt
The XPD protein plays a pivotal role in basal transcription and in nucleotide excision repair (NER) as one of the ten known components of the transcription factor TFIIH. Mutations in XPD can result in the DNA repair-deficient diseases xeroderma pigmentosum (XP), trichothiodystrophy (TTD), cerebro-oculo-facial-skeletal syndrome, and in combined phenotypes such as XP/Cockayne syndrome and XP/TTD. We describe here...
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