Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

Hum Mol Genet. 1993 Nov;2(11):1953-5. doi: 10.1093/hmg/2.11.1953.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Blindness / genetics*
  • Chromosome Mapping
  • DNA Primers
  • Exons
  • Female
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Spain
  • X Chromosome*

Substances

  • DNA Primers