GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
Ilona Visapää1,2, Vineta Fellman3, Jouni Vesa1, Ayan Dasvarma4, Jenna L. Hutton5, Vijay Kumar6, Gregory S. Payne5, Marja Makarow6, Rudy Van Coster7, Robert W. Taylor8, Douglass M. Turnbull8, Anu Suomalainen9, Leena Peltonen1,2,10
1Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles
2Department of Molecular Medicine, National Public Health Institute, University of Helsinki, Helsinki
3Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki
4Murdoch Children’s Research Institute, Melbourne, Australia
5Department of Biological Chemistry, University of California Los Angeles School of Medicine, Los Angeles
6Institute of Biotechnology, University of Helsinki, Helsinki
7Department of Pediatrics, Ghent University Hospital, Ghent, Belgium
8Department of Neurology, University of Newcastle upon Tyne, Newcastle, United Kingdom
9Department of Neurology and Programme of Neurosciences, University of Helsinki, Helsinki
10Department of Medical Genetics, University of Helsinki, Helsinki
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The American Journal of Human Genetics
Tập 71
863-876
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