TY  - JOUR
AU  - Remacha, Laura
AU  - Pirman, David
AU  - Mahoney, Christopher E
AU  - Coloma, Javier
AU  - Calsina, Bruna
AU  - Curras-Freixes, Maria
AU  - Leton, Rocío
AU  - Torres-Perez, Rafael
AU  - Richter, Susan
AU  - Pita, Guillermo
AU  - Herraez, Belen
AU  - Cianchetta, Giovanni
AU  - Honrado, Emiliano
AU  - Maestre, Lorena
AU  - Urioste, Miguel
AU  - Aller, Javier
AU  - Garcia-Uriarte, Oscar
AU  - Galvez, Maria Angeles
AU  - Luque, Raul M
AU  - Lahera, Marcos
AU  - Moreno-Rengel, Cristina
AU  - Eisenhofer, Graeme
AU  - Montero-Conde, Cristina
AU  - Rodriguez-Antona, Cristina
AU  - Llorca, Oscar
AU  - Smolen, Gromoslaw A
AU  - Robledo, Mercedes
AU  - Cascon, Alberto
PY  - 2019
DO  - 10.1016/j.ajhg.2019.02.017
UR  - http://hdl.handle.net/10668/13773
T2  - American journal of human genetics
AB  - 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...
LA  - en
PB  - Cell Press
KW  - DLST
KW  - TCA cycle
KW  - Cancer susceptibility gene
KW  - Paraganglioma
KW  - Pheochromocytoma
KW  - Acyltransferases
KW  - Adrenal gland neoplasms
KW  - Adult
KW  - Basic helix-loop-helix transcription factors
KW  - Carcinogenesis
KW  - Catalytic domain
KW  - Citric acid cycle
KW  - DNA methylation
KW  - Female
KW  - Gene expression profiling
KW  - Gene expression regulation
KW  - Genetic predisposition to disease
KW  - Germ-line mutation
KW  - High-throughput nucleotide sequencing
KW  - Humans
KW  - Loss of heterozygosity
KW  - Male
KW  - Middle aged
KW  - Paraganglioma
KW  - Pheochromocytoma
TI  - Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.
TY  - research article
VL  - 104
ER  -