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Journal Articles

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

Tobias Schwerd, Stephen R.F. Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A. Miller, Indira B. Taylor, Melania Capitani, Simon J. McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F. Freeman, Joshua D. Milner, Steven M. Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A. Wall, E. Yvonne Jones, Andrew O.M. Wilkie, Holm H. Uhlig
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (9): 2547–2562.
https://doi.org/10.1084/jem.20161810
Published: 26 July 2017
View articletitled, A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis
Includes: Supplementary data
Journal Articles

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

Venetia Bigley, Muzlifah Haniffa, Sergei Doulatov, Xiao-Nong Wang, Rachel Dickinson, Naomi McGovern, Laura Jardine, Sarah Pagan, Ian Dimmick, Ignatius Chua, Jonathan Wallis, Jim Lordan, Cliff Morgan, Dinakantha S. Kumararatne, Rainer Doffinger, Mirjam van der Burg, Jacques van Dongen, Andrew Cant, John E. Dick, Sophie Hambleton, Matthew Collin
Journal: Journal of Experimental Medicine
J Exp Med (2011) 208 (2): 227–234.
https://doi.org/10.1084/jem.20101459
Published: 17 January 2011
View articletitled, The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency
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Includes: Supplementary data