Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
SLC33A1 基因突变会导致致命的常染色体隐性遗传病，并伴有先天性白内障、听力丧失以及血清铜和铜蓝蛋白含量低
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.11.030
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 Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth B
