SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas

Mutations within three genes, SDHB, SDHC, and SDHD, encoding distinct subunits of a hetero‐oligomeric protein known as the mitochondrial complex II, a component of the mitochondrial electron transport chain and the Krebs cycle have been implicated in the pathogenesis of hereditary paraganglioma (PGL...

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Veröffentlicht in:	Clinical genetics 2004-11, Vol.66 (5), p.461-466
Hauptverfasser:	Mhatre, AN, Li, Y, Feng, L, Gasperin, A, Lalwani, AK
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Biological and medical sciences DNA Mutational Analysis Electrons General aspects. Genetic counseling Genetic Testing Genetics Germ-Line Mutation - genetics Head and Neck Neoplasms - genetics hereditary paraganglioma Humans Iron-Sulfur Proteins Medical genetics Medical sciences Membrane Proteins - genetics Molecular Sequence Data Mutation Neurology Paraganglioma - genetics Pedigree Protein Subunits - genetics Proteins Sequence Alignment sporadic paraganglioma succinate dehydrogenase Succinate Dehydrogenase - genetics Tumors of the nervous system. Phacomatoses
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