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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...

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Detalles Bibliográficos
Autores principales: Schipani, Angela, Nannini, Margherita, Astolfi, Annalisa, Pantaleo, Maria A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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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