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VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

Peter H Tang | Gabriel Velez | Stephen H Tsang | Alexander G Bassuk | Vinit B Mahajan
Investigative ophthalmology & visual science | 2019

To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical course of three family members with Versican Vitreoretinopathy (VVR) is described, and a canonical splice site mutation in the gene encoding for versican (VCAN) protein was biochemically analyzed.

Pubmed ID: 30657523

Research resources used in this publication

None found

Antibodies used in this publication

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Associated grants

  • Agency: NEI NIH HHS, United States
    Id: R01 EY024698
  • Agency: NEI NIH HHS, United States
    Id: K08 EY020530
  • Agency: NEI NIH HHS, United States
    Id: R01 EY025225
  • Agency: NCI NIH HHS, United States
    Id: P30 CA013696
  • Agency: NEI NIH HHS, United States
    Id: R01 EY024665
  • Agency: NEI NIH HHS, United States
    Id: R01 EY026682
  • Agency: NEI NIH HHS, United States
    Id: R01 EY018213
  • Agency: NIA NIH HHS, United States
    Id: R21 AG050437
  • Agency: NEI NIH HHS, United States
    Id: P30 EY019007
  • Agency: NEI NIH HHS, United States
    Id: P30 EY026877
  • Agency: NIGMS NIH HHS, United States
    Id: T32 GM007337

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