Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C, or D, leading to dysfunction of complex II of the electron transport chain....

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Hauptverfasser: Janeway, Katherine A., Kim, Su Young, Lodish, Maya, Nosé, Vânia, Rustin, Pierre, Gaal, José, Dahia, Patricia L. M., Liegl, Bernadette, Ball, Evan R., Raygada, Margarita, Lai, Angela H., Kelly, Lorna, Hornick, Jason L., O'Sullivan, Maureen, de Krijger, Ronald R., Dinjens, Winand N. M., Demetri, George D., Antonescu, Cristina R., Fletcher, Jonathan A., Helman, Lee, Stratakis, Constantine A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2011
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3017134/
https://ncbi.nlm.nih.gov/pubmed/21173220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1009199108
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