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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Cell Dev Biol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2020
Pynciau:
Cell and Developmental Biology
Mynediad Ar-lein: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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