Article
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
Journal of medical genetics - 1 Mar 2002
Baysal B E, Willett-Brozick J E, Lawrence E C, Drovdlic C M, Savul S A, McLeod D R, Yee H A, Brackmann D E, Slattery W H, Myers E N, Ferrell R E, Rubinstein W S
Abstract excerpt
BACKGROUND: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations in the mitochondrial complex II genes, SDHB, SDHC, and SDHD, cause hereditary paraganglioma (PGL). METHODS: We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients...
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