Cargando…

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder of eye movement that can be caused by mutations in the FRMD7 gene that encodes a FERM domain protein. FRMD7 is expressed in the brain and knock-down studies suggest it plays a role in neurite extension through modulation of...

Descripción completa

Detalles Bibliográficos
Autores principales: Watkins, Rachel J., Patil, Rajashree, Goult, Benjamin T., Thomas, Mervyn G., Gottlob, Irene, Shackleton, Sue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633374/
https://www.ncbi.nlm.nih.gov/pubmed/23406872
http://dx.doi.org/10.1093/hmg/ddt060