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- W2899492700 abstract "It was found that the mutations in the SDHD gene, encoding one of subunits of the succinate dehydrogenase complex, lead to the development of head and neck paraganglioma (HNPGL). We analyzed this gene in 91 patients with HNPGL from Russia.DNA was isolated from the whole blood. A screening for mutations was performed by Sanger sequencing.We revealed three missense mutations that have been described previously: p.Pro81Leu, p.His102Arg, p.Tyr114Cys. Moreover, we identified a novel potentially pathogenic variant (p.Trp105*).We found that mutations in the SDHD gene were less common in Russian patients compared with the majority of European populations. It was shown that the p.His102Arg mutation is a major mutation in Russia. We confirmed the previous suggestion that a bilateral localization of the tumor and the carotid type represent a marker of the genetically determined form of HNPGL." @default.
- W2899492700 created "2018-11-09" @default.
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- W2899492700 date "2018-10-30" @default.
- W2899492700 modified "2023-10-17" @default.
- W2899492700 title "The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma" @default.
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- W2899492700 doi "https://doi.org/10.1080/00207454.2018.1503181" @default.
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