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2690985 : Pigment Dispersion Syndrome and Pigmentary Glaucoma Associated Variants in Premelanosome Protein (PMEL) Cause Protein Processing and Fibrillogenesis Defects

Researchers

Presenter

  • Adrian Lahola-Chomiak

Principal Investigators

  • Baojian Fan

  • Tim Footz

  • David S Greenfield

  • Robert Ritch

  • Jamie E. Craig

  • Janey L Wiggs

  • Ordan J Lehmann

  • Michael A Walter

Medical Centers

  • Hepatology, University of Alberta, Edmonton, Alberta, Canada

  • Ophthalmology, New York Eye & Ear Infirmary of Mount Sinai, New York, New York, United States

  • Department of Surgery, Flinders University, Adelaide, South Australia, Australia

  • Department of Ophthamology, University of Alberta Hospital, Edmonton, Alberta, Canada

  • 2Bascom Palmer Eye Institute Miami FL United States

  • Ophthalmology, Massachusetts Eye and Ear Infirmary - Harvard Medical School, Boston, Massachusetts, United States

Locations

  • Canada

  • United States

  • Australia

Companies

  • N/A

Study Components

Therapeutic Area

  • Ophthalmology (OP)

Disease

  • N/A

Biomarkers

  • Nucleoside diphosphate kinase A

  • Solute Carrier Family 26 Member 4

Drug/Treatment

  • N/A

Outcome

  • N/A


Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A