Article
Molecular characterisation of a common SDHB deletion in paraganglioma patients.
Journal of medical genetics - 1 Apr 2008
Cascón A, Landa I, López-Jiménez E, Díez-Hernández A, Buchta M, Montero-Conde C, Leskelä S, Leandro-García L J, Letón R, Rodríguez-Antona C, Eng C, Neumann H P H, Robledo M
Abstract excerpt
BACKGROUND: Hereditary susceptibility to familial paraganglioma syndromes is mainly due to mutations in one of six genes, including three of the four genes encoding the subunits of the mitochondrial succinate dehydrogenase complex II. Although prevalence, penetrance and clinical characteristics of patients carrying point mutations affecting the genes encoding succinate dehydrogenase have been well studied, little...
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