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 en:Sci Rep
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2019
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Article
Acceso en línea: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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