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

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

Abstract 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 ass...

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Autores principales: Ruth T. Casey, Rogier ten Hoopen, Eguzkine Ochoa, Benjamin G. Challis, James Whitworth, Philip S. Smith, Jose Ezequiel Martin, Graeme R. Clark, Fay Rodger, Mel Maranian, Kieren Allinson, Basetti Madhu, Thomas Roberts, Luis Campos, Joanne Anstee, Soo-Mi Park, Alison Marker, Colin Watts, Venkata R. Bulusu, Olivier T. Giger, Eamonn R. Maher
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/e8bf863475e349e4b6af0bc8e9781f47
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