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Pathogenic TERT promoter variants in telomere diseases

PURPOSE: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes. METHODS: We s...

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Detalles Bibliográficos
Autores principales:	Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., Young, Neal S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555700/ https://www.ncbi.nlm.nih.gov/pubmed/30523342 http://dx.doi.org/10.1038/s41436-018-0385-x

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