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Novel Germline SUCLG2 Mutations in Patients With Pheochromocytoma and Paraganglioma

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors derived from neural crest cells that are frequently linked to mutations including those in Krebs cycle enzymes, particularly succinate dehydrogenase (SDH). Succinyl-CoA ligase (SUCL) catalyzes reversible conversion of succin...

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Detalles Bibliográficos
Autores principales: Vanova, Katerina Hadrava, Pang, Ying, Krobova, Linda, Kraus, Michal, Nahacka, Zuzana, Boukalova, Stepana, Pack, Svetlana, Zobalova, Renata, Zhu, Jun, Huynh, Thanh, Jochmanova, Ivana, Uher, Ondrej, Hubackova, Sona, Dvorakova, Sarka, Garrett, Timothy, Ghayee, Hans, Schuster, Bjoern, Knapp, Philip, Frysak, Zdenek, Hartmann, Igor, Nilubol, Naris, Cerny, Jiri, Taieb, David, Rohlena, Jakub, Neuzil, Jiri, Yang, Chun Zhang, Pacak, Karel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8265745/
http://dx.doi.org/10.1210/jendso/bvab048.340