Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

Am J Med Genet. 1997 Oct 17;72(2):242-4. doi: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eye Abnormalities / genetics*
  • Female
  • Genetic Linkage
  • Humans
  • Italy
  • Male
  • Point Mutation*
  • X Chromosome*