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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2020
נושאים:
Cell and Developmental Biology
גישה מקוונת: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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