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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2019
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Article
Linkit: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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