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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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
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Article
Online adgang: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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