A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Authors: Edwin M. Stone, Andrew Lotery, Francis L. Munier, Elise Héon, Bertrand Piguet, Robyn H. Guymer, Kimberlie Vandenburgh, Pascal Cousin, Darryl Nishimura, Ruth E. Swiderski, Giuliana Silvestri, David A. Mackey, Gregory S. Hageman, Alan C. Bird, Val C. Sheffield, Daniel F. Schorderet - Nature Genetics 1999 cited by 495