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GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

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

Am J Hum Genet. 2002 Oct; 71(4): 863–876. Published online 2002 Sep 5. doi: 10.1086/342773

PMCID:: PMC378542

Abstract Article PDF–480K

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