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Filtering by: Committee Member Lee, Norman H Keyword diagnostic Keyword Cornea Dystrophy Keyword Vision

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1. Characterization of UBIAD1 and Its Role in Schnyder Corneal Dystrophy

Description:: Schnyder corneal dystrophy (SCD) is an inherited, autosomal dominant eye disease first described in 1924. Mutations in a novel gene, UBIAD1, were recently found to cause SCD. SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea, resulting in progressive...
Author:: Nickerson, Michael Leroy
Keyword:: Vision, Cornea Dystrophy, Cholesterol, diagnostic, Protein modeling, and Cell biology
GW Unit:: Biomedical Sciences
Degree:: Ph.D.
Advisor:: Dean, Michael and Stepp, Mary Ann
Committee Member(s):: Leitenberg, David, Zbar, Berton, Lee, Norman H, and Schwartz, Arnold M.
Resource Type:: Thesis or Dissertation