Article
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
BMC cancer - 24 Jul 2017
Dwight Trisha, Na Un, Kim Edward, Zhu Ying, Richardson Anne Louise, Robinson Bruce G, Tucker Katherine M, Gill Anthony J, Benn Diana E, Clifton-Bligh Roderick J, Winge Dennis R
Abstract excerpt
BACKGROUND: Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL). As assembly factors have been identified as playing a role in maturation of individual SDH subunits and assembly of the functioning SDH complex, we hypothesized that SDHAF3 variants may be associated with PC/PGL and functionality of...
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