Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

BACKGROUND: The shelterin complex protects chromosomal ends by regulating how the telomerase complex interacts with telomeres. Following the recent finding in familial melanoma of inactivating germline mutations in POT1, encoding a member of the shelterin complex, we searched for mutations in the ot...

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Bibliografiset tiedot
Julkaisussa:J Natl Cancer Inst
Päätekijät: Aoude, Lauren G., Pritchard, Antonia L., Robles-Espinoza, Carla Daniela, Wadt, Karin, Harland, Mark, Choi, Jiyeon, Gartside, Michael, Quesada, Víctor, Johansson, Peter, Palmer, Jane M., Ramsay, Andrew J., Zhang, Xijun, Jones, Kristine, Symmons, Judith, Holland, Elizabeth A., Schmid, Helen, Bonazzi, Vanessa, Woods, Susan, Dutton-Regester, Ken, Stark, Mitchell S., Snowden, Helen, van Doorn, Remco, Montgomery, Grant W., Martin, Nicholas G., Keane, Thomas M., López-Otín, Carlos, Gerdes, Anne-Marie, Olsson, Håkan, Ingvar, Christian, Borg, Åke, Gruis, Nelleke A., Trent, Jeffrey M., Jönsson, Göran, Bishop, D. Timothy, Mann, Graham J., Newton-Bishop, Julia A., Brown, Kevin M., Adams, David J., Hayward, Nicholas K.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2014
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4334787/
https://ncbi.nlm.nih.gov/pubmed/25505254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnci/dju408
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