Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma
作者: Trisha DwightUn NaEdward KimYing ZhuAnne Louise RichardsonBruce G. RobinsonKatherine M. TuckerAnthony J. GillDiana E. BennRoderick J. Clifton-BlighDennis R. Winge
作者单位: 1Kolling Institute of Medical Research, Royal North Shore Hospital
2University of Sydney
3University of Utah Health Sciences Center
4Royal North Shore Hospital
5Prince of Wales Hospital
刊名: BMC Cancer, 2017, Vol.17 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12885-017-3486-z
关键词: Succinate dehydrogenaseSDHAF3SDHBPheochromocytomaParaganglioma
英文摘要: Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL). As assembly factors have been identified as playing a role in maturation of individual SDH subunits and assembly of the functioning SDH complex, we hypothesized that SDHAF3 variants may be associated with PC/PGL and functionality of SDH.
原始语种摘要: Germline mutations in genes encoding subunits of succinate dehydrogenase (SDH) are associated with the development of pheochromocytoma (PC) and/or paraganglioma (PGL). As assembly factors have been identified as playing a role in maturation of individual SDH subunits and assembly of the functioning SDH complex, we hypothesized that SDHAF3 variants may be associated with PC/PGL and functionality of SDH.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:3.333 (2012)

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关键词翻译
关键词翻译
  • paraganglioma 副神经节瘤
  • sporadic 零星的
  • assembly 组装
  • SDH 格式数据处理
  • associated 相关的
  • succinate 琥珀酸盐
  • familial 家族性
  • maturation 成熟
  • encoding 编码
  • complex 超群