Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

van Alphen, F. P. J.; Vanleeuwen, K.; Vanbruggen, R.; Tuna, S.; Urniaz, R. D.; Welch, S. B.; Willcocks, L.; Workman, S.; Worth, A.; Yeatman, N.; Yong, P. F. K.; Tool, Anton T. J.; Sprenkeler, Evelien G. G.; Adhya, Z.; Alachkar, H.; Allen, C. E.; Anantharachagan, A.-H.; Antrobus, R.; Arumu-Gakani, G.; Bacchelli, C.; Baxendale, H. E.; Bethune, C.; Bibi, S.; Boardman, B.; Kreft, Iris C.; Booth, C.; Brown, M.; Browning, M. J.; Brownlie, M.; Buckland,; Seneviratne, Suranjith L.; Burren, O. S.; Chandra, A.; Chinn, I. K.; Clifford, H.; Cooper, N.; Bree, G. J.; Maimaris, Jesmeen; Davies, E. G.; Deacock, S.; Dempster, J.; Devlin, L. A.; Drewe, E.; Alphen, Floris P. J.; Edgar, J. D. M.; Egner, W.; Khalifa, S. E.; El-Shanawany, T.; Farmery, J. H. R.; Gaspar, H. B.; Ghurye, R.; Gil-Mour, K. C.; Goddard, S.; Gordins, P.; Grigoriadou, S.; Hackett, S. J.; Hague, R.; Harper, L.; Luqmani, Asad; Hayman, G.; Herwadkar, A.; Hughes, S.; Huissoon, A. P.; Burns, Siobhan O.; Jolles, S.; Jones, J.; Karim, Y. M.; Kelleher, P.; Kiani, S.; Klein, N.; Kuijpers, Taco W.; Kumararatne, D. S.; Laffan, J.; Allen, H. L.; Lear, S. E.; Longhurst, H.; Lorenzo, L. E.; Lyons, P. A.; Manson, A.; McDermott, E. M.; Millar, H.; Mistry, A.; Morrisson,; Murng, S. H. K.; Nasir, I.; Leeuwen, Karin; Nejentsev, S.; Noor-Ani, S.; Oksenhendler, E.; Ponsford, M. J.; Qasim, W.; Quinn, E.; Quinti, I.; Rayner-Matthews, P.; Richter, A.; Samarghitean, C.; Sargur, R. B.; Bruggen, Robin; Savic, S.; Sewell, W. A. C.; Shackley, F.; Shamardina, O.; Simeoni, I.; Smith, K. G. C.; Staples, E.; Stauss, H.; Steele, C. L.; Stirrups, K. E.; Thaventhiran, J. E.; Thomas, D. C.; Thomas, M. J.; Thrasher, A. J.; Todd, J. A.

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Wiley, British Journal of Haematology, 5(191), p. 930-934, 2020

DOI: 10.1111/bjh.17081

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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

Journal article published in 2020 by F. P. J. van Alphen, K. Vanleeuwen, R. Vanbruggen, S. Tuna, R. D. Urniaz, S. B. Welch, L. Willcocks, S. Workman, A. Worth, N. Yeatman, P. F. K. Yong, Anton T. J. Tool, Evelien G. G. Sprenkeler

, Z. Adhya, H. Alachkar and other authors.

This paper is made freely available by the publisher.

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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees