Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, Vincent Plagnol, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, UK Inherited Retinal Dis, Yvonne Henskens, NIHR-BioResource Rare Dis, Andrew R. Webster*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)334-342
Number of pages9
JournalAmerican Journal of Human Genetics
Volume100
Issue number2
DOIs
Publication statusPublished - 2 Feb 2017

Keywords

  • INTEGRATIVE GENOMICS VIEWER
  • NUCLEOTIDE EXCHANGE FACTOR
  • CELL FEATURES
  • MOSAIC EYES
  • OKO-MEDUZY
  • CRB1
  • PROTEIN
  • MORPHOGENESIS
  • RHOA
  • ACTIVATION

Cite this

Arno, G., Carss, K. J., Hull, S., Zihni, C., Robson, A. G., Fiorentino, A., Hardcastle, A. J., Holder, G. E., Cheetham, M. E., Plagnol, V., Moore, A. T., Raymond, F. L., Matter, K., Balda, M. S., UK Inherited Retinal Dis, Henskens, Y., NIHR-BioResource Rare Dis, & Webster, A. R. (2017). Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. American Journal of Human Genetics, 100(2), 334-342. https://doi.org/10.1016/j.ajhg.2016.12.014