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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...
Autores principales: | Watkins, Rachel J., Patil, Rajashree, Goult, Benjamin T., Thomas, Mervyn G., Gottlob, Irene, Shackleton, Sue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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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 |
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