Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma

Saima Aijaz, Brian J Clark, Kathleen Williamson, Veronica van Heyningen, Danny Morrison, David Fitzpatrick, Richard Collin, Nicola Ragge, Andrea Christoforou, Alison Brown, Isabel Hanson

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.
Original languageEnglish
Pages (from-to)3871-6
Number of pages6
JournalInvestigative Ophthalmology & Visual Science (IOVS)
Issue number11
Publication statusPublished - Nov 2004

Keywords / Materials (for Non-textual outputs)

  • Adult
  • Anophthalmos
  • Chromatography, High Pressure Liquid
  • Coloboma
  • DNA Mutational Analysis
  • Exons
  • Eye Proteins
  • Gene Amplification
  • Homeodomain Proteins
  • Humans
  • Microphthalmos
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Sequence Analysis, DNA
  • Trans-Activators


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