A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

This publication has 36 references indexed in Scilit:

• Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
  European Journal of Human Genetics, 2000
• A New Locus for Autosomal Dominant Stargardt-Like Disease Maps to Chromosome 4
  American Journal of Human Genetics, 1999
• Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
  European Journal of Human Genetics, 1998
• Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
  Nature Genetics, 1998
• Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
  Science, 1997
• Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
  Nature Genetics, 1997
• Mutation detection by denaturing gradient gel electrophoresis (DGGE)
  Human Mutation, 1994
• Long-Term Follow-Up of Dominant Macular Dystrophy with Flecks (Stargardt)
  Ophthalmologica, 1992
• Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
  Proceedings of the National Academy of Sciences, 1989
• Über familiäre, progressive Degeneration in der Maculagegend des Auges
  Albrecht von Graefes Archiv für Ophthalmologie, 1909