Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four familie...

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Detalles Bibliográficos
Autores principales: Zhang, Xiao, Ge, Xianglian, Yu, Ying, Zhang, Yilan, Wu, Yaming, Luan, Yin, Sun, Ji, Qu, Jia, Jin, Zi-Bing, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894538/
https://www.ncbi.nlm.nih.gov/pubmed/24434814
http://dx.doi.org/10.1038/srep03745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3894538/
https://www.ncbi.nlm.nih.gov/pubmed/24434814
http://dx.doi.org/10.1038/srep03745

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