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

AuthorsS J Talks, N Ebenezer, P Hykin, G Adams, F Yang, E Schulenberg, K Gregory-Evans, C Y Gregory-Evans
JournalJournal of medical genetics (J Med Genet) Vol. 38 Issue 12 Pg. E46 (Dec 2001) ISSN: 1468-6244 [Electronic] England
PMID11748312 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins
  • RNA Splice Sites
Topics
  • 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, physiopathology)
  • Twins (genetics)

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