Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family.

Mao, Fei; Bao, Mengxin; Fan, Youfei; Zhu, Meijia; Li, Xiuhua

Mao, Fei; Bao, Mengxin; Fan, Youfei; Zhu, Meijia; Li, Xiuhua.

Afiliação

Mao F; Department of Neurology, The First Affiliated Hospital of Shandong First Medical University, Jinan, 250014, People's Republic of China.
Bao M; Department of Neurology, Liaocheng People's Hospital, Liaocheng, 252000, People's Republic of China.
Fan Y; Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, 250021, People's Republic of China.
Zhu M; Department of Neurology, The First Affiliated Hospital of Shandong First Medical University, Jinan, 250014, People's Republic of China.
Li X; Department of Neurology, The First Affiliated Hospital of Shandong First Medical University, Jinan, 250014, People's Republic of China. lxh_sdfmu@163.com.

Acta Neurol Belg ; 120(6): 1453-1455, 2020 Dec.

Article em En | MEDLINE | ID: mdl-32002796

Assuntos

ATPases Associadas a Diversas Atividades Celulares/genética; Metaloendopeptidases/genética; Paraplegia Espástica Hereditária/genética; Povo Asiático/genética; Feminino; Humanos; Masculino; Mutação de Sentido Incorreto; Linhagem; Adulto Jovem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Metaloendopeptidases / Paraplegia Espástica Hereditária / ATPases Associadas a Diversas Atividades Celulares Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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