Article
High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.
The Journal of clinical endocrinology and metabolism - 1 Dec 2007
Lima Jorge, Feijão Tália, Ferreira da Silva André, Pereira-Castro Isabel, Fernandez-Ballester Gregorio, Máximo Valdemar, Herrero Agustin, Serrano Luis, Sobrinho-Simões Manuel, Garcia-Rostan Ginesa
Abstract excerpt
PURPOSE: Germline SDHB, SDHC, and/or SDHD mutations have been reported in familial and apparently sporadic paragangliomas (PGLs). There is, however, some variation in the prevalence, penetrance, and phenotypic expression of the succinate dehydrogenase (SDH) mutated gene among different population...
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