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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

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 meth...

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Udgivet i:Nucleic Acids Res
Principais autores: Khan, Sikandar G., Muniz-Medina, Vanessa, Shahlavi, Tala, Baker, Carl C., Inui, Hiroki, Ueda, Takahiro, Emmert, Steffen, Schneider, Thomas D., Kraemer, Kenneth H.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2002
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Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC134237/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12177305/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/gkf469
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