Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas

CONTEXT: Germline mutations in the succinate dehydrogenase genes (SDHA/B/C/D, SDHAF2—collectively, “SDHx”) have been implicated in paraganglioma (PGL), renal cell carcinoma (RCC), gastrointestinal stromal tumor (GIST), and pituitary adenoma (PA). Negative SDHB tumor staining is indicative of SDH-def...

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Dettagli Bibliografici
Pubblicato in:J Endocr Soc
Autori principali: De Sousa, Sunita M C, Toubia, John, Hardy, Tristan S E, Feng, Jinghua, Wang, Paul, Schreiber, Andreas W, Geoghegan, Joel, Hall, Rachel, Rawlings, Lesley, Buckland, Michael, Luxford, Catherine, Novos, Talia, Clifton-Bligh, Roderick J, Poplawski, Nicola K, Scott, Hamish S, Torpy, David J
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
Soggetti:
Clinical Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7646550/
https://ncbi.nlm.nih.gov/pubmed/33195952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa071
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