Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele

J Med Genet. 2003 Jul;40(7):e90. doi: 10.1136/jmg.40.7.e90.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Consanguinity
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genes, Dominant / genetics
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Pedigree
  • Sequence Deletion
  • Trans-Activators / genetics*

Substances

  • Homeodomain Proteins
  • Trans-Activators
  • cone rod homeobox protein

Associated data

  • OMIM/204000