Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.

Zhang, Xinying; Guo, Ya; Sun, Wenxiu

Zhang, Xinying; Guo, Ya; Sun, Wenxiu.

Afiliação

Zhang X; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China.
Guo Y; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China.
Sun W; Department of Pediatric, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 250021, Jinan, Shandong, China. wenxiusunslyy@126.com.

Mol Biol Rep ; 49(9): 9107-9112, 2022 Sep.

Article em En | MEDLINE | ID: mdl-35764747

Assuntos

Neuropatia Axonal Gigante; China; Proteínas do Citoesqueleto/genética; Neuropatia Axonal Gigante/genética; Humanos; Mutação/genética

Palavras-chave

GAN gene; Giant axonal neuropathy; Mutation; Novel variations

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatia Axonal Gigante Tipo de estudo: Prognostic_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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