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Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

As subsets of pheochromocytomas (PCCs) lack a defined molecular etiology, we sought to characterize the mutational landscape of PCCs to identify novel gene candidates involved in disease development. A discovery cohort of 15 PCCs wild type for mutations in PCC susceptibility genes underwent whole‐ex...

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Detalles Bibliográficos
Autores principales: Juhlin, C. Christofer, Stenman, Adam, Haglund, Felix, Clark, Victoria E., Brown, Taylor C., Baranoski, Jacob, Bilguvar, Kaya, Goh, Gerald, Welander, Jenny, Svahn, Fredrika, Rubinstein, Jill C., Caramuta, Stefano, Yasuno, Katsuhito, Günel, Murat, Bäckdahl, Martin, Gimm, Oliver, Söderkvist, Peter, Prasad, Manju L., Korah, Reju, Lifton, Richard P., Carling, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755142/
https://www.ncbi.nlm.nih.gov/pubmed/26032282
http://dx.doi.org/10.1002/gcc.22267