Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism
在一名患有B型血友病和眼皮肤白化病的患者中鉴定出HPS6基因的新突变
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2016.08.009
O'Brien, Kevin J; Lozier, Jay; Cullinane, Andrew R; Osorio, Brigitte; Nghiem, Khanh; Speransky, Vladislav; Zein, Wadih M; Mullikin, James C; Neff, Anne T; Simon, Karen L; Malicdan, May Christine V; Gahl, William A; Young, Lisa R; Gochuico, Bernadette R