A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif

Hum Mol Genet. 1995 Nov;4(11):2179-80. doi: 10.1093/hmg/4.11.2179.
No abstract available

MeSH terms

  • Blindness / genetics*
  • Cystine
  • Eye Proteins / chemistry
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • X Chromosome

Substances

  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins
  • Cystine