GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
The American Journal of Human Genetics2002Vol. 71(4), pp. 863–876
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Ilona Visapää, Vineta Fellman, Jouni Vesa, Ayan Dasvarma, Jenna Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor, Douglass M. Turnbull, Anu Suomalainen, Leena Peltonen
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