Cargando…
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
PURPOSE: Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families w...
Autores principales: | Li, Ningdong, Wang, Liming, Cui, Lihong, Zhang, Li, Dai, Suzhen, Li, Hongyan, Chen, Xia, Zhu, Lina, Hejtmancik, James F, Zhao, Kanxing |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324116/ https://www.ncbi.nlm.nih.gov/pubmed/18431453 |
Ejemplares similares
-
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus
por: Li, Ningdong, et al.
Publicado: (2011) -
The Role of FRMD7 in Idiopathic Infantile Nystagmus
por: Watkins, Rachel J., et al.
Publicado: (2012) -
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
por: Chen, Junjue, et al.
Publicado: (2019) -
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
por: Han, Ruifang, et al.
Publicado: (2015) -
Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
por: Lee, Junwon, et al.
Publicado: (2022)