Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

JOURNAL OF CLINICAL INVESTIGATION

van der Crabben, SN; Hennus, MP; McGregor, GA; Ritter, DI; Nagamani, SCS; Wells, OS; Harakalova, M; Chinn, IK; Alt, A; Vondrova, L; Hochstenbach, R; van Montfrans, JM; Terheggen-Lagro, SW; van Lieshout, S; van Roosmalen, MJ; Renkens, I; Duran, K; Nijman, IJ; Kloosterman, WP; Hennekam, E; Orange, JS; van Hasselt, PM; Wheeler, DA; Palecek, JJ; Lehmann, AR; Oliver, AW; Pearl, LH; Plon, SE; Murray, JM; van Haaften, G, 2016: Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. JOURNAL OF CLINICAL INVESTIGATION 126(8), p. 2881 - 2892, doi: 10.1172/JCI82890

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