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GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy

There is still a considerable proportion of patients with inherited peripheral neuropathy (IPN) whose pathogenic genes are unknown. This study was intended to investigate whether the GGC repeat expansion in the NOTCH2NLC is presented in some patients with IPN. A total of 142 unrelated mainland Chine...

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Detalles Bibliográficos
Autores principales: Wang, Hui, Yu, Jiaxi, Yu, Meng, Deng, Jianwen, Zhang, Wei, Lv, He, Liu, Jing, Shi, Xin, Liang, Wei, Jia, Zhirong, Hong, Daojun, Meng, Lingchao, Wang, Zhaoxia, Yuan, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293674/
https://www.ncbi.nlm.nih.gov/pubmed/34306035
http://dx.doi.org/10.3389/fgene.2021.694790