A <i>De novo</i> Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

Yu, Hao; Chen, Yu-Chao; Liu, Gong-Lu; Wu, Zhi-Ying

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

Yu, Hao; Chen, Yu-Chao; Liu, Gong-Lu; Wu, Zhi-Ying.

Afiliação

Yu H; Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.
Chen YC; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350004, China.
Liu GL; Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.
Wu ZY; Department of Neurology and Research Center of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China.

Chin Med J (Engl) ; 130(19): 2273-2278, 2017 Oct 05.

Article em En | MEDLINE | ID: mdl-28937030

Assuntos

Distrofina/genética; Distrofia Muscular de Duchenne/genética; Mutação/genética; Adolescente; Análise Mutacional de DNA; Éxons/genética; Feminino; Haplótipos/genética; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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