Probable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer's disease.

Xia, Mingrong; Chen, Shuai; Shi, Yingying; Huang, Yue; Xu, Junling; Zhao, Ting; He, Shuang; Wu, Yingying; Xu, Changshui; Zang, Weizhou; Zhang, Jiewen

Xia, Mingrong; Chen, Shuai; Shi, Yingying; Huang, Yue; Xu, Junling; Zhao, Ting; He, Shuang; Wu, Yingying; Xu, Changshui; Zang, Weizhou; Zhang, Jiewen.

Afiliação

Xia M; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Chen S; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Shi Y; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Huang Y; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Xu J; Department of Radiology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Zhao T; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
He S; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Wu Y; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Xu C; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Zang W; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: zangweizhou@hotmail.com.
Zhang J; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: zhangjiewen9900@126.com.

Neurobiol Aging ; 36(12): 3334.e13-3334.e18, 2015 Dec.

Article em En | MEDLINE | ID: mdl-26422362

Assuntos

Doença de Alzheimer/genética; Substituição de Aminoácidos/genética; Estudos de Associação Genética; Leucina/genética; Mutação de Sentido Incorreto/genética; Presenilina-2/genética; Prolina/genética; Doença de Alzheimer/diagnóstico; Povo Asiático/genética; Códon/genética; Diagnóstico por Imagem; Éxons/genética; Humanos; Presenilina-2/química

Palavras-chave

ASL; Alzheimer's disease; P123L mutation; PSEN2; Positron emission tomography

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Prolina / Substituição de Aminoácidos / Mutação de Sentido Incorreto / Presenilina-2 / Estudos de Associação Genética / Doença de Alzheimer / Leucina Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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