Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms.

Zhang, Wenwen; Zeng, Qingfu; Xu, Yingqi; Ying, Houqun; Zhou, Wei; Cao, Qing; Zhou, Weimin

Zhang, Wenwen; Zeng, Qingfu; Xu, Yingqi; Ying, Houqun; Zhou, Wei; Cao, Qing; Zhou, Weimin.

Afiliação

Zhang W; Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
Zeng Q; Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
Xu Y; Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
Ying H; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China; Department of Laboratory Medicine, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Zhou W; Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Cao Q; Key Laboratory of Molecular Medicine of Jiangxi Province, Nanchang, Jiangxi, China.
Zhou W; Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China. Electronic address: drzwm@sina.com.

Clin Chim Acta ; 468: 211-214, 2017 May.

Article em En | MEDLINE | ID: mdl-28283438

Assuntos

Aneurisma Aórtico/genética; Povo Asiático/genética; Sequenciamento do Exoma; Mutação de Sentido Incorreto; Linhagem; Proteína Smad2/genética; Laranja de Acridina; Sequência de Aminoácidos; Animais; Biologia Computacional; Feminino; Heterozigoto; Humanos; Masculino; Pessoa de Meia-Idade; Proteína Smad2/química

Palavras-chave

Aortic aneurysms; Mutation; SMAD2; Whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma Aórtico / Linhagem / Mutação de Sentido Incorreto / Povo Asiático / Proteína Smad2 / Sequenciamento do Exoma Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Chim Acta Ano de publicação: 2017 Tipo de documento: Article País de afiliação: China País de publicação: Holanda

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