A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

J Med Genet. 2003 Nov;40(11):e124. doi: 10.1136/jmg.40.11.e124.
No abstract available

Publication types

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

MeSH terms

  • Arginine / genetics
  • Cataract / congenital*
  • Cataract / genetics*
  • Connexins
  • Eye Proteins / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Iran
  • Lens Nucleus, Crystalline / pathology*
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Threonine / genetics

Substances

  • Connexins
  • Eye Proteins
  • connexin 50
  • Threonine
  • Arginine

Associated data

  • OMIM/600897