Article
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
BMC medical genetics - 15 Apr 2009
Bayley Jean-Pierre, Grimbergen Anneliese E M, van Bunderen Patrick A, van der Wielen Michiel, Kunst Henricus P, Lenders Jacques W, Jansen Jeroen C, Dullaart Robin P F, Devilee Peter, Corssmit Eleonora P, Vriends Annette H, Losekoot Monique, Weiss Marjan M
Abstract excerpt
BACKGROUND: Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH), the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few...
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