The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features

作者: RF Badenhop , JC Jansen , Paul Anthony Fagan , RSA Lord , ZG Wang

DOI: 10.1136/JMG.2003.011551

关键词: SkullSDHBLocus (genetics)Carotid bodySDHDGenetic linkageGermline mutationBiologyParagangliomaAnatomy

摘要: … The remaining 21% of the mutations identified in the present study were in the SDHB gene. SDHB mutations were present in 10% of the familial cases and 9% of the sporadic cases. …

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