A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease

Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Blindness / epidemiology
  • Blindness / genetics*
  • Cuba / epidemiology
  • Deafness / epidemiology
  • Deafness / genetics
  • Exons
  • Eye Abnormalities / epidemiology
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • Intellectual Disability / epidemiology
  • Intellectual Disability / genetics
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Syndrome
  • X Chromosome*