Functional characterization of the human RPGR proximal promoter

Xinhua Shu, Julie R. Simpson, Alan W. Hart, Zhihong Zeng, Sarita Rani Patnaik, Philippe Gautier, Emma Murdoch, Brian Tulloch, Alan F. Wright

Research output: Contribution to journalArticle

Abstract

Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene.
Original languageEnglish
Pages (from-to)3951-3958
Number of pages8
JournalInvestigative Ophthalmology & Visual Science
Volume53
Issue number7
Early online date10 May 2012
DOIs
Publication statusPublished - Jun 2012

Keywords

  • gene mutations
  • human RPGR gene

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    Shu, X., Simpson, J. R., Hart, A. W., Zeng, Z., Patnaik, S. R., Gautier, P., Murdoch, E., Tulloch, B., & Wright, A. F. (2012). Functional characterization of the human RPGR proximal promoter. Investigative Ophthalmology & Visual Science, 53(7), 3951-3958. https://doi.org/10.1167/iovs.11-8811