Article
Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines.
Mutation research - 29 Jan 2006
Hall Hana, Gurský Ján, Nicodemou Andreas, Rybanská Ivana, Kimlícková Erika, Pirsel Miroslav
Abstract excerpt
Mutation of the XPB gene in humans gives rise to the distinct, autosomal recessive disorder, with a striking clinical heterogeneity: xeroderma pigmentosum associated with Cockayne's syndrome and trichothiodystrophy. XPB is a subunit of a multifunctional RNA polymerase II general initiation factor TFIIH and codes for 3'-->5' DNA helicase essential for both nucleotide excision repair (NER) and transcription. Since...
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