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      Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

      Nature genetics

      Chromosomes, Human, Pair 1, genetics, DNA Mutational Analysis, DNA, Complementary, Electron Transport Complex II, Female, Genes, Dominant, Humans, Male, Membrane Proteins, deficiency, physiology, Mitochondria, enzymology, Molecular Sequence Data, Multienzyme Complexes, chemistry, Mutagenesis, Site-Directed, Neoplastic Syndromes, Hereditary, Oxidoreductases, Paraganglioma, classification, Pedigree, Protein Subunits, Succinate Dehydrogenase

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          Abstract

          Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance.

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          Journal
          11062460
          10.1038/81551

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