Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

Pheochromocytomas and paragangliomas (PPGLs) provide some of the clearest genetic evidence for the critical role of metabolism in the tumorigenesis process. Approximately 40% of PPGLs are caused by driver germline mutations in 16 known susceptibility genes, and approximately half of these genes enco...

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Pubblicato in:Am J Hum Genet
Autori principali: Remacha, Laura, Pirman, David, Mahoney, Christopher E., Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M., Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A., Robledo, Mercedes, Cascón, Alberto
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451733/
https://ncbi.nlm.nih.gov/pubmed/30929736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.02.017
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