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The homozygous variant c.245G > A/p.G82D in PNPLA2 is associated with arrhythmogenic cardiomyopathy phenotypic manifestations.
Rao, Man; Guo, Guangran; Li, Mengmeng; Chen, Shi; Chen, Kai; Chen, Xiao; Song, Jiangping; Hu, Shengshou.
Afiliação
  • Rao M; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Guo G; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li M; Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Chen S; Department of Obstetric and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China.
  • Chen K; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Chen X; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Song J; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Hu S; State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Clin Genet ; 96(6): 532-540, 2019 12.
Article em En | MEDLINE | ID: mdl-31525260
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Arritmogênica Ventricular Direita / Estudos de Associação Genética / Lipase / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Arritmogênica Ventricular Direita / Estudos de Associação Genética / Lipase / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China