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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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Bibliographic Details
Main Authors: 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
Language:Inglês
Published: National Academy of Sciences 2011
Subjects:
Biological Sciences
Online Access: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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