Article
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Nucleic acids research - 15 Aug 2002
Khan Sikandar G, Muniz-Medina Vanessa, Shahlavi Tala, Baker Carl C, Inui Hiroki, Ueda Takahiro, Emmert Steffen, Schneider Thomas D, Kraemer Kenneth H
Abstract excerpt
XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82-882 bp) and 15 introns (0.08-5.4 kb). A 1.6 kb intron was found within exon 5. Sensitive real- time quantitative reverse transcription-polymerase chain reaction methods were developed to measure full-length XPC mRNA (the predominant form) and isoforms that skipped exons 4, 7 or...
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