TY - JOUR AU - Remacha, Laura AU - Currás-Freixes, Maria AU - Torres-Ruiz, Raúl AU - Schiavi, Francesca AU - Torres-Pérez, Rafael AU - Calsina, Bruna AU - Letón, Rocío AU - Comino-Méndez, Iñaki AU - Roldán-Romero, Juan M AU - Montero-Conde, Cristina AU - Santos, María AU - Pérez, Lucía Inglada AU - Pita, Guillermo AU - Alonso, María R AU - Honrado, Emiliano AU - Pedrinaci, Susana AU - Crespo-Facorro, Benedicto AU - Percesepe, Antonio AU - Falcioni, Maurizio AU - Rodríguez-Perales, Sandra AU - Korpershoek, Esther AU - Ramón-Maiques, Santiago AU - Opocher, Giuseppe AU - Rodríguez-Antona, Cristina AU - Robledo, Mercedes AU - Cascón, Alberto PY - 2018 DO - 10.1038/s41436-018-0003-y UR - http://hdl.handle.net/10668/12435 T2 - Genetics in medicine : official journal of the American College of Medical Genetics AB - The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of... LA - en KW - CRISPR/Cas9 gene editing KW - DNMT3A KW - exome sequencing KW - hypermethylation KW - paraganglioma KW - Adrenal Gland Neoplasms KW - Adult KW - CRISPR-Cas Systems KW - DNA (Cytosine-5-)-Methyltransferases KW - DNA Methylation KW - DNA Methyltransferase 3A KW - Female KW - Gain of Function Mutation KW - Genetic Predisposition to Disease KW - Genotype KW - Germ-Line Mutation KW - Humans KW - Male KW - Paraganglioma KW - Pheochromocytoma KW - Exome Sequencing TI - Gain-of-function mutations in DNMT3A in patients with paraganglioma. TY - research article VL - 20 ER -