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 Hutton, Vijay Kumar, Gregory S. Payne, Marja Makarow, Rudy Van Coster, Robert W. Taylor,

The American Journal of Human Genetics · 2002 · 297 citations · 27 references

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