Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Research output: Contribution to journalArticle

Abstract

To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy. To investigate whether Bestrophin may be expressed in normal human retina.

Details

Authors
  • Dror Sharon
  • Sermed Al-Hamdani
  • Karl Engelsberg
  • Liliana Mizrahi-Meissonnier
  • Alexey Obolensky
  • Eyal Banin
  • Birgit Sander
  • Hanne Jensen
  • Michael Larsen
  • Patrik Schatz
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Ophthalmology
Original languageEnglish
Pages (from-to)697-709
JournalAmerican Journal of Ophthalmology
Volume157
Issue number3
Publication statusPublished - 2014
Publication categoryResearch
Peer-reviewedYes

Total downloads

No data available