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Identification of a novel idiopathic congenital nystagmus-causing missense mutation, p.G296C, in the FRMD7 gene

Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our understanding of its molecular pathogenesis. In the present study, direct sequencing using gene specific primers was performed in order to identify the causative mutations in two brothers from a Chinese fam...

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Detalles Bibliográficos
Autores principales:	Xiu, Yanghui, Yao, Yihua, Yang, Tanchu, Pan, Meihua, Yang, Hui, Fang, Weifang, Gu, Feng, Zhao, Junzhao, Zhu, Yihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2018
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102629/ https://www.ncbi.nlm.nih.gov/pubmed/30015830 http://dx.doi.org/10.3892/mmr.2018.9260

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