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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Detalhes bibliográficos
Publicado no:J Natl Cancer Inst
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Article
Acesso em linha: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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