Article

A study of succinate dehydrogenase deficient tumourigenesis : from functional assessment of variant pathogenicity to the discovery of new disease biomarkers

2019-01-01

Abstract excerpt

A loss of function of the citric acid cycle enzyme complex succinate dehydrogenase (SDH) is associated with a predisposition to a spectrum of tumourigenesis including phaeochromocytoma, paraganglioma (1) (PPGL), gastrointestinal stromal tumours (GIST) (2), renal cell carcinoma (RCC) (3) and pituitary adenomas (4). Pathogenic variants in each of the four genes (SDHx) encoding the four sub-components of this complex...

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Literature Corpus work: 7f3f6619-3de6-53a2-ba1e-42811ac7d8bc
DOI: 10.17863/cam.39029

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