Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I

Eye (Lond). 2006 Jun;20(6):743-5. doi: 10.1038/sj.eye.6702001. Epub 2005 Jul 8.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Collagen Type II / genetics*
  • Eye Diseases, Hereditary / genetics*
  • Female
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Retinal Detachment / genetics*
  • Syndrome

Substances

  • COL2A1 protein, human
  • Collagen Type II