Pathogenic mutations conferring alpha-1 antitrypsin deficiency are accurately identified by a novel multiplexed molecular assay

E. Decurtis, S. Kuss-Duerkop, Iara M.P. Machado, Zoe P. Stewart, Matt Jackson, E. Hasenohr, Jessica L. Crumby, S.D. Groshong, C. Coeshott, R. Harbeck, James Woodrow, R. Sandhaus, Yongbao Wang
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新型多重分子测定法可准确识别α-1 抗胰蛋白酶缺乏症的致病突变
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