SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SDH-deficient tumours are most commonly associated w...

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Publicado no:Sci Rep
Main Authors: Casey, Ruth T., ten Hoopen, Rogier, Ochoa, Eguzkine, Challis, Benjamin G., Whitworth, James, Smith, Philip S., Martin, Jose Ezequiel, Clark, Graeme R., Rodger, Fay, Maranian, Mel, Allinson, Kieren, Madhu, Basetti, Roberts, Thomas, Campos, Luis, Anstee, Joanne, Park, Soo-Mi, Marker, Alison, Watts, Colin, Bulusu, Venkata R., Giger, Olivier T., Maher, Eamonn R.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629852/
https://ncbi.nlm.nih.gov/pubmed/31308404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-46124-9
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