A mosaic activating mutation in AKT1 associated with the Proteus syndrome
与普罗特斯综合征相关的AKT1嵌合激活突变
期刊:New England Journal of Medicine
影响因子:78.5
doi:10.1056/NEJMoa1104017
Lindhurst, Marjorie J; Sapp, Julie C; Teer, Jamie K; Johnston, Jennifer J; Finn, Erin M; Peters, Kathryn; Turner, Joyce; Cannons, Jennifer L; Bick, David; Blakemore, Laurel; Blumhorst, Catherine; Brockmann, Knut; Calder, Peter; Cherman, Natasha; Deardorff, Matthew A; Everman, David B; Golas, Gretchen; Greenstein, Robert M; Kato, B Maya; Keppler-Noreuil, Kim M; Kuznetsov, Sergei A; Miyamoto, Richard T; Newman, Kurt; Ng, David; O'Brien, Kevin; Rothenberg, Steven; Schwartzentruber, Douglas J; Singhal, Virender; Tirabosco, Roberto; Upton, Joseph; Wientroub, Shlomo; Zackai, Elaine H; Hoag, Kimberly; Whitewood-Neal, Tracey; Robey, Pamela G; Schwartzberg, Pamela L; Darling, Thomas N; Tosi, Laura L; Mullikin, James C; Biesecker, Leslie G