Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Peter Huppke(Jena University Hospital), Jutta Gärtner(German Center for Pediatric and Adolescent Rheumatology), Orly Elpeleg(Hadassah Medical Center), Anthony Donsante(University of Washington), Ling Yi(University of Massachusetts Amherst), Cornelia Brendel(Philipps University of Marburg), John Christodoulou(The University of Melbourne), Peter Steinbach(University Hospital Ulm), Callum Wilson(Auckland City Hospital), Julia D. Hicks(National Institutes of Health), Iris Marquardt(Klinikum Oldenburg), Lisbeth Birk Møller(Aalborg University Hospital), Georg Christoph Korenke(Klinikum Oldenburg), Stephen G. Kaler(Nationwide Children's Hospital)
Human Mutation
April 16, 2012
Cited by 38


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