Mutations in <i>SDHD</i> , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

E. Baysal, Bora; E. Ferrell, Robert; E. Willett-Brozick, Joan; Lawrence, Elizabeth; Myssiorek, David; Marie Bosch, Anne; van der Mey, Andel; E.M. Taschner, Peter; S. Rubinstein, Wendy; N. Myers, Eugene; W. Richard, Charles; J. Cornelisse, Cees; Devilee, Peter; Devlin, Bernie

doi:10.1126/science.287.5454.848

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Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Published in Science • Feb 4, 2000

Authors:

Bora E. Baysal

Robert E. Ferrell

Joan E. Willett-Brozick

Abstract

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, rev...

Subject

SDHD

Paraganglioma

Biology

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