Article
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Clinical endocrinology - 1 Dec 2003
Astuti Dewi, Hart-Holden Niki, Latif Farida, Lalloo Fiona, Black Graeme C, Lim Caron, Moran Anthony, Grossman Ashley B, Hodgson Shirley V, Freemont Anthony, Ramsden Richard, Eng Charis, Evans D Gareth R, Maher Eamonn R
Abstract excerpt
BACKGROUND: Germline mutations in three subunits of mitochondrial complex II (SDHB, SDHC and SDHD) may be associated with susceptibility to phaeochromocytoma (PC) and/or head and neck paraganglioma (HNPGL). METHODS: To further define the role of SDH subunit mutations in these disorders, we analysed a series of 22 probands with PC and evidence of genetic susceptibility (seven with familial PC only, one with...
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