Gain-of-function mutations in DNMT3A in patients with paraganglioma
Gain-of-function mutations in DNMT3A in patients with paraganglioma
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Author / Creator
Remacha, Laura , Currás-Freixes, Maria , Torres-Ruiz, Raúl , Schiavi, Francesca , Torres-Pérez, Rafael , Calsina, Bruna , Letón, Rocío , Comino-Méndez, Iñaki , Roldán-Romero, Juan M , Montero-Conde, Cristina , Santos, María , Pérez, Lucía Inglada , Pita, Guillermo , Alonso, María R. , Honrado, Emiliano , Pedrinaci, Susana , Crespo-Facorro, Benedicto , Percesepe, Antonio , Falcioni, Maurizio , Rodríguez-Perales, Sandra , Korpershoek, Esther , Ramón-Maiques, Santiago , Opocher, Giuseppe , Rodríguez-Antona, Cristina , Robledo, Mercedes and Cascón, Alberto
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
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 disease in patients strongly suspected of having hereditary tumors.
Whole-exome sequencing was a...
Alternative Titles
Full title
Gain-of-function mutations in DNMT3A in patients with paraganglioma
Authors, Artists and Contributors
Author / Creator
Currás-Freixes, Maria
Torres-Ruiz, Raúl
Schiavi, Francesca
Torres-Pérez, Rafael
Calsina, Bruna
Letón, Rocío
Comino-Méndez, Iñaki
Roldán-Romero, Juan M
Montero-Conde, Cristina
Santos, María
Pérez, Lucía Inglada
Pita, Guillermo
Alonso, María R.
Honrado, Emiliano
Pedrinaci, Susana
Crespo-Facorro, Benedicto
Percesepe, Antonio
Falcioni, Maurizio
Rodríguez-Perales, Sandra
Korpershoek, Esther
Ramón-Maiques, Santiago
Opocher, Giuseppe
Rodríguez-Antona, Cristina
Robledo, Mercedes
Cascón, Alberto
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2036790393
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2036790393
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0003-y