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Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
Lin, Yubi; Huang, Jiana; He, Siqi; Feng, Ruiling; Zhong, ZhiAn; Liu, Yang; Ye, Weitao; Li, Xin; Liao, Hongtao; Fei, Hongwen; Rao, Fang; Shan, Zhixin; Deng, Chunyu; Zhan, Xianzhang; Xue, Yumei; Liu, Hui; Zhang, Bin; Wang, Kejian; Zhang, Qianhuan; Wu, Shulin; Lin, Xiufang.
Afiliação
  • Lin Y; Department of Cardiology and Cardiovascular Intervention, Interventional Medical Center, The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, 519000, People's Republic of China.
  • Huang J; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • He S; Department of Cardiology and Cardiovascular Intervention, Interventional Medical Center, The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, 519000, People's Republic of China.
  • Feng R; Jinan University, Guangzhou, 510630, China.
  • Zhong Z; Department of Cardiology and Cardiovascular Intervention, Interventional Medical Center, The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, 519000, People's Republic of China.
  • Liu Y; Jinan University, Guangzhou, 510630, China.
  • Ye W; Department of Cardiology and Cardiovascular Intervention, Interventional Medical Center, The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, 519000, People's Republic of China.
  • Li X; Jinan University, Guangzhou, 510630, China.
  • Liao H; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Fei H; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Rao F; Department of Radiology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, 510080, People's Republic of China.
  • Shan Z; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Deng C; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Zhan X; Department of Echocardiography, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, 510080, People's Republic of China.
  • Xue Y; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Liu H; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Zhang B; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Wang K; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Zhang Q; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
  • Wu S; Department of Radiology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, 510080, People's Republic of China.
  • Lin X; Guangdong Cardiovascular Institute, Guangdong Academy of Medical Sciences, Guangdong General Hospital, Guangdong Provincial Key Laboratory of Clinical Pharmacology, Affiliated to Medical school of South China University of Technology, Guangzhou, 510080/520006, People's Republic of China.
BMC Med Genet ; 19(1): 148, 2018 08 21.
Article em En | MEDLINE | ID: mdl-30129429

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Morte Súbita Cardíaca / Displasia Arritmogênica Ventricular Direita / Canais de Potássio de Abertura Dependente da Tensão da Membrana / Morte Súbita / Desmogleína 2 / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Morte Súbita Cardíaca / Displasia Arritmogênica Ventricular Direita / Canais de Potássio de Abertura Dependente da Tensão da Membrana / Morte Súbita / Desmogleína 2 / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article