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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depleti...
Autores principales: | Schipani, Angela, Nannini, Margherita, Astolfi, Annalisa, Pantaleo, Maria A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048394/ https://www.ncbi.nlm.nih.gov/pubmed/36980917 http://dx.doi.org/10.3390/genes14030646 |
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