Authors: Visapää, Ilona Fellman, Vineta Vesa, Jouni Dasvarma, Ayan Hutton, Jenna L. Kumar, Vijay Payne, Gregory S. Makarow, Marja Van Coster, Rudy Taylor, Robert W. Turnbull, Douglass Suomalainen, Anu Peltonen, Leena

Citation: Visapää, Ilona et al., GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L, American journal of human genetics , 71(4), 2002, pp. 863-876