Article
W43X SDHD mutation in sporadic head and neck paraganglioma.
Analytical and quantitative cytology and histology - 1 Apr 2008
Galera-Ruiz Hugo, Gonzalez-Campora Ricardo, Rey-Barrera Manuel, Rollón-Mayordomo Angel, Garcia-Escudero Antonio, Fernández-Santos José M, DeMiguel Manuel, Galera-Davidson Hugo
Abstract excerpt
OBJECTIVE: To analyze the presence of SDHD gene mutations in patients with sporadic head and neck paraganglioma. STUDY DESIGN: The presence of somatic and germline SDHD mutations was investigated in 10 patients by polymerase chain reaction and direct sequencing. RESULTS: Two patients displayed mutations: 259C>T (P87S) in 1 case and 129G>A (W43X) in the other. The first was considered a neutral polymorphism. The...
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