A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration

Am J Ophthalmol. 2002 Sep;134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Alternative Splicing / genetics*
  • Collagen Type II / genetics*
  • Exons / genetics*
  • Eye Diseases / genetics*
  • Frameshift Mutation*
  • Humans
  • Retinal Degeneration / genetics*
  • Vitreous Body / pathology*

Substances

  • COL2A1 protein, human
  • Collagen Type II