De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity

J Med Genet. 2001 Dec;38(12):E46. doi: 10.1136/jmg.38.12.e46.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Child, Preschool
  • DNA Mutational Analysis
  • Diseases in Twins / genetics
  • Dosage Compensation, Genetic
  • Exons / genetics
  • Eye Proteins / genetics*
  • Female
  • Gestational Age
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Promoter Regions, Genetic / genetics
  • RNA Splice Sites / genetics
  • Regulatory Sequences, Nucleic Acid / genetics*
  • Retinopathy of Prematurity / genetics*
  • Retinopathy of Prematurity / physiopathology
  • Twins / genetics

Substances

  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins
  • RNA Splice Sites