Article
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 May 2012
Lefebvre S, Borson-Chazot F, Boutry-Kryza N, Wion N, Schillo F, Peix J-L, Brunaud L, Finat A, Calender A, Giraud S
Abstract excerpt
Thirty per cent of the paragangliomas and pheochromocytomas reported are hereditary. Mutations in SDHB, SDHC, SDHD, and more recently SDHAF2 and TMEM127 genes have been described in these hereditary tumors. We looked for mutations in these 5 genes in a series of 269 patients with paragangliomas a...
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