Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation

Graefes Arch Clin Exp Ophthalmol. 2007 Sep;245(9):1401-2. doi: 10.1007/s00417-007-0554-0. Epub 2007 Mar 9.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blindness / congenital
  • Blindness / genetics*
  • Child
  • Female
  • Frameshift Mutation*
  • Genes, Dominant*
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Nucleic Acid Heteroduplexes
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Retinal Degeneration / genetics*
  • Trans-Activators / genetics*

Substances

  • Homeodomain Proteins
  • Nucleic Acid Heteroduplexes
  • Trans-Activators
  • cone rod homeobox protein