Article
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Science (New York, N.Y.) - 4 Feb 2000
Baysal B E, Ferrell R E, Willett-Brozick J E, Lawrence E C, Myssiorek D, Bosch A, van der Mey A, Taschner P E, Rubinstein W S, Myers E N, Richard C W, Cornelisse C J, Devilee P, Devlin B
Abstract excerpt
Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood. Analysis of families carrying the PGL1 gene, described here, revealed germ line mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial respiratory chain...
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