Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

IMPORTANCE: The protection of telomeres 1 protein (POT1) is a critical component of the shelterin complex, a multiple-protein machine that regulates telomere length and protects telomere ends. Germline variants in POT1 have been linked to familial melanoma, and somatic mutations are associated with...

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Publicado en:JAMA Dermatol
Autores principales: Wong, Kim, Robles-Espinoza, Carla Daniela, Rodriguez, David, Rudat, Saskia S., Puig, Susana, Potrony, Miriam, Wong, Chi C., Hewinson, James, Aguilera, Paula, Puig-Butille, Joan Anton, Bressac-de Paillerets, Brigitte, Zattara, Hélène, van der Weyden, Louise, Fletcher, Christopher D. M., Brenn, Thomas, Arends, Mark J., Quesada, Víctor, Newton-Bishop, Julia A., Lopez-Otin, Carlos, Bishop, D. Timothy, Harms, Paul W., Johnson, Timothy M., Durham, Alison B., Lombard, David B., Adams, David J.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Medical Association 2018
Materias:
Brief Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506889/
https://ncbi.nlm.nih.gov/pubmed/30586141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamadermatol.2018.3662
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