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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Detalhes bibliográficos
Publicado no:Front Cell Dev Biol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Cell and Developmental Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7672047/
https://ncbi.nlm.nih.gov/pubmed/33251218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2020.591781
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