Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation

PURPOSE: FERM domain containing protein 7 (FRMD7) mutations are associated with X-linked idiopathic congenital nystagmus (ICN). The purpose of this study is to identify a novel splice variant of FRMD7 (FRMD7-S) in both humans and mice with a shortened exon 4 relative to the original form of FRMD7 (F...

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Detalles Bibliográficos
Autores principales: Li, Yingzhi, Pu, Jiali, Liu, Zhirong, Xu, Shanhu, Jin, FanYing, Zhu, Lijun, Tian, Jun, Luo, Jianhong, Zhang, Baorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224827/
https://www.ncbi.nlm.nih.gov/pubmed/22128244

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