Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Titel:
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Auteur:
Huppke, Peter Brendel, Cornelia Kalscheuer, Vera Korenke, Georg Christoph Marquardt, Iris Freisinger, Peter Christodoulou, John Hillebrand, Merle Pitelet, Gaele Wilson, Callum Gruber-Sedlmayr, Ursula Ullmann, Reinhard Haas, Stefan Elpeleg, Orly Nürnberg, Gudrun Nürnberg, Peter Dad, Shzeena Birk Møller, Lisbeth Kaler, Stephen G. Gärtner, Jutta