Article
A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.
American journal of medical genetics. Part A - 15 Nov 2006
Ogawa Kazumi, Shiga Kiyoto, Saijo Shigeru, Ogawa Takenori, Kimura Noriko, Horii Akira
Abstract excerpt
Head and neck paragangliomas are tumors derived from parasympathetic paraganglia. Familial cases account for 10% or more of these tumors, and mutations of the genes encoding subunits for the mitochondrial respiratory chain complex II, SDHD, SDHB, and SDHC, have been reported. We analyzed mutations in the all four SDH genes, SDHA through SDHD, in a Japanese family with cervical paraganglioma that include a father...
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