Article
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
Clinical genetics - 1 Mar 2012
Hensen E F, van Duinen N, Jansen J C, Corssmit E P M, Tops C M J, Romijn J A, Vriends A H J T, van der Mey A G L, Cornelisse C J, Devilee P, Bayley J P
Abstract excerpt
Mutations in four genes encoding subunits or cofactors of succinate dehydrogenase (SDH) cause hereditary paraganglioma and pheochromocytoma syndromes. Mutations in SDHB and SDHD are generally the most common, whereas mutations in SDHC and SDHAF2 are far less frequently observed. A total of 1045 DNA samples from Dutch paraganglioma and pheochromocytoma patients and their relatives were analyzed for mutations of...
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