Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease
腺苷三磷酸酶铜转运β亚基的同义突变导致威尔逊病中外显子跳跃增强。
期刊:Hepatology Communications
影响因子:4.6
doi:10.1002/hep4.1922
Panzer, Marlene; Viveiros, André; Schaefer, Benedikt; Baumgartner, Nadja; Seppi, Klaus; Djamshidian, Atbin; Todorov, Theodor; Griffiths, William J H; Schott, Eckart; Schuelke, Markus; Eurich, Dennis; Stättermayer, Albert Friedrich; Bomford, Adrian; Foskett, Pierre; Vodopiutz, Julia; Stauber, Rudolf; Pertler, Elke; Morell, Bernhard; Tilg, Herbert; Müller, Thomas; Kiechl, Stefan; Jimenez-Heredia, Raul; Weiss, Karl Heinz; Hahn, Si Houn; Janecke, Andreas; Ferenci, Peter; Zoller, Heinz
