Article
Mutations of the SDHB and SDHD genes.
Familial cancer - 1 Jan 2005
Pawlu Christian, Bausch Birke, Neumann Hartmut P H
Abstract excerpt
The succinate dehydrogenase (SDH) is a mitochondrial enzyme complex with an important role in oxydative phosphorylation and intracellular oxygene sensing and signaling. Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma and pheochromocytoma. For both genes mutations have been described that result in a loss...
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