Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.

Zhang, Erge; Hong, Nanchao; Chen, Sun; Fu, Qihua; Li, Fen; Yu, Yu; Sun, Kun

Zhang, Erge; Hong, Nanchao; Chen, Sun; Fu, Qihua; Li, Fen; Yu, Yu; Sun, Kun.

Afiliação

Zhang E; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
Hong N; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
Chen S; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China.
Fu Q; Medical Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.
Li F; Department of Pediatric Cardiology, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.
Yu Y; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China. Electronic address: yuyu@xinhuamed.com.cn.
Sun K; Department of Pediatric Cardiovascular, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, China. Electronic address: sunkun@xinhuamed.com.cn.

Gene ; 641: 341-348, 2018 Jan 30.

Article em En | MEDLINE | ID: mdl-29101065

Assuntos

Fator de Transcrição GATA6/genética; Variação Genética/genética; Cardiopatias Congênitas/genética; Adolescente; Sequência de Aminoácidos; Animais; Linhagem Celular; Núcleo Celular/genética; Criança; Pré-Escolar; Citoplasma/genética; Feminino; Humanos; Lactente; Recém-Nascido; Masculino; Camundongos; Proteínas Mutantes/genética; Regiões Promotoras Genéticas/genética; Ativação Transcricional/genética

Palavras-chave

Conotruncal heart defect; GATA6; Targeted sequencing; Variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Fator de Transcrição GATA6 / Cardiopatias Congênitas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Gene Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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