Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)

Adv Exp Med Biol. 2008:613:203-9. doi: 10.1007/978-0-387-74904-4_23.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Gene Deletion
  • Gene Dosage
  • Genes, Dominant*
  • Genes, X-Linked
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Linkage
  • Genetic Testing
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Pedigree
  • Perilipin-2
  • Polymorphism, Single Nucleotide
  • Retinitis Pigmentosa / genetics*
  • Sequence Analysis, DNA

Substances

  • Membrane Proteins
  • PLIN2 protein, human
  • Perilipin-2