A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.

Hu, Yu; Tian, Zhen; Zhao, Bin; Dong, Chuansheng; Cao, Lihua

Hu, Yu; Tian, Zhen; Zhao, Bin; Dong, Chuansheng; Cao, Lihua.

Afiliação

Hu Y; Center of Reproductive Medicine, Second Affiliated Hospital, Naval Medical University, Shanghai, 200003, China.
Tian Z; College of Kinesiology, Shenyang Sport University, Shenyang, 110102, Liaoning, China.
Zhao B; College of Kinesiology, Shenyang Sport University, Shenyang, 110102, Liaoning, China.
Dong C; School of Management, Shenyang Sport University, Shenyang, 110102, Liaoning, China. Bestshiner@163.com.
Cao L; College of Kinesiology, Shenyang Sport University, Shenyang, 110102, Liaoning, China. lhcao@cmu.edu.cn.

Neurol Sci ; 43(6): 3973-3977, 2022 Jun.

Article em En | MEDLINE | ID: mdl-35348941

Assuntos

Encefalopatias; Leucoencefalite Hemorrágica Aguda; Chaperonas Moleculares; Complexo de Proteínas Formadoras de Poros Nucleares; Encefalopatias/genética; Humanos; Leucoencefalite Hemorrágica Aguda/genética; Chaperonas Moleculares/genética; Mutação de Sentido Incorreto; Complexo de Proteínas Formadoras de Poros Nucleares/genética

Palavras-chave

Acute necrotizing encephalopathy; RANBP2; Variation; Whole-exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Chaperonas Moleculares / Leucoencefalite Hemorrágica Aguda / Complexo de Proteínas Formadoras de Poros Nucleares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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