Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications

Arch Ophthalmol. 2012 Nov;130(11):1486-90. doi: 10.1001/archophthalmol.2012.1697.
No abstract available

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis / methods*
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • Phenotype
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism
  • Retinitis Pigmentosa / pathology
  • Rod Cell Outer Segment / metabolism
  • Rod Cell Outer Segment / pathology

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • DNA