Journal article

Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin (vol 90, pg 61, 2012)

Peter Huppke, Cornelia Brendel, 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