Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Peter Huppke, Cornelia Brende, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr, Reinhard Ullmann, Stefan Haas, Orly Elpeleg, Gudrun Nuernberg, Peter Nuernberg, Shzeena Dad, Lisbeth Birk Moller, Stephen G Kaler, Jutta Gaertner
The American Journal of Human Genetics | CELL PRESS | Published : 2012
Awarded by European Union
Awarded by National Institutes of Health, Bethesda, MD
Awarded by German Research Foundation
We thank Ines Muller and Melanie Bienek for excellent technical assistance. Part of this work was financed by the European Union's Seventh Framework Program under grant agreement number 241995, project GENCODYS, the Intramural Research Program of the National Institutes of Health, Bethesda, MD (Project #HD008768-08), and the German Research Foundation (GA 354/9-1).