p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Congenital nystagmus (CN) is an ocular movement disorder manifested as involuntary conjugated binocular oscillation and usually occurs in early infancy. The pathological mechanism underlying CN is still poorly understood. We mapped a novel genetic locus 9q33.1-q34.2 in a larger Chinese family with a...

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Detalles Bibliográficos
Autores principales: Li, Yulei, Jiang, Lei, Wang, Lejin, Wang, Cheng, Liu, Chunjie, Guo, Anyuan, Liu, Mugen, Zhang, Luoying, Ma, Cong, Zhang, Xianqin, Gao, Shangbang, Liu, Jing Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672047/
https://www.ncbi.nlm.nih.gov/pubmed/33251218
http://dx.doi.org/10.3389/fcell.2020.591781

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672047/
https://www.ncbi.nlm.nih.gov/pubmed/33251218
http://dx.doi.org/10.3389/fcell.2020.591781

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