De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

Nat Genet. 1998 Apr;18(4):311-2. doi: 10.1038/ng0498-311.
No abstract available

Publication types

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

MeSH terms

  • Blindness / congenital*
  • Blindness / genetics*
  • Blindness / physiopathology
  • Family Health
  • Genes / genetics*
  • Homeodomain Proteins / genetics*
  • Humans
  • Mutation / genetics
  • Mutation / physiology
  • Trans-Activators / genetics*

Substances

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