Article
Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.
Blood - 15 May 1999
Schuster V, Seidenspinner S, Zeitler P, Escher C, Pleyer U, Bernauer W, Stiehm E R, Isenberg S, Seregard S, Olsson T, Mingers A M, Schambeck C, Kreth H W
Abstract excerpt
Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%,...
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