Article
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.
Endocrine journal - 1 May 2008
Takekoshi Kazuhiro, Isobe Kazumasa, Suzuki Hiroaki, Nissato Sumiko, Kawakami Yasushi, Kawai Koichi, Yamada Nobuhiro
Abstract excerpt
Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). Growing evidence suggests that a mutation of SDHB is highly associated with abdominal (or thoracic) paraganglioma and the following distant metastasis...
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