A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome

Retina. 2006 Jan;26(1):106-9. doi: 10.1097/00006982-200601000-00019.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child
  • Collagen Type II / genetics*
  • DNA Mutational Analysis
  • Eye Abnormalities / genetics*
  • Humans
  • Introns / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Myopia / genetics*
  • Polymerase Chain Reaction
  • Retinal Detachment / genetics
  • Retinal Perforations / genetics*
  • Syndrome
  • Tomography, Optical Coherence
  • Vitreous Body / abnormalities*

Substances

  • COL2A1 protein, human
  • Collagen Type II