Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy

Giant axonal neuropathy (GAN) is a very rare autosomal recessive disorder characterized by abnormally large and dysfunctional neuronal axons. Mutations in the GAN gene have been identified as the cause of this disorder. In this report, we performed a detailed phenotypic assessment of a Chinese patie...

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Detalles Bibliográficos
Autores principales: Xu, Xiaomin, Yang, Xiaokai, Su, Zhongliang, Wang, Hai, Li, Xiaoqing, Sun, Congcong, Wang, Wenhuan, Chen, Yao, Zhang, Chenhui, Zhang, Hongping, Jin, Fan, Zheng, Jiayong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052293/
https://www.ncbi.nlm.nih.gov/pubmed/32158379
http://dx.doi.org/10.3389/fnins.2020.00085

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