@article{0cae8bf9b28748408384b2f1151b3a87,
title = "Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees",
keywords = "congenital neutropenia, granulocyte colony-stimulating factor, granulocyte colony-stimulating factor receptor, neutrophils, primary immunodeficiency",
author = "{NBR-RD PID Consortium} and {NIHR BioResource} and Sprenkeler, {Evelien G.G.} and Tool, {Anton T.J.} and Kreft, {Iris C.} and {van Alphen}, {Floris P.J.} and Seneviratne, {Suranjith L.} and Jesmeen Maimaris and Asad Luqmani and Karin Vanleeuwen and Robin Vanbruggen and Burns, {Siobhan O.} and Kuijpers, {Taco W.} and Zoe Adhya and Hana Alachkar and Allen, {Carl E.} and Anantharachagan, {Ari Haran} and Richard Antrobus and Gururaj Arumu-Gakani and Chiara Bacchelli and Baxendale, {Helen E.} and Claire Bethune and Shahnaz Bibi and Barbara Boardman and Claire Booth and Matthew Brown and Browning, {Michael J.} and Mary Brownlie and Buckland, {Matthew S.} and Burns, {Siobhan O.} and Burren, {Oliver S.} and Anita Chandra and Chinn, {Ivan K.} and Hayley Clifford and Nichola Cooper and Bree, {Godelieve J.de} and Davies, {E. Graham} and Sarah Deacock and John Dempster and Devlin, {Lisa A.} and Elizabeth Drewe and Edgar, {J. David M.} and William Egner and Khalifa, {Shuayb El} and Tariq El-Shanawany and Farmery, {James H.R.} and Gaspar, {H. Bobby} and Rohit Ghurye and Gil-Mour, {Kimberly C.} and Sarah Goddard and Pavels Gordins and Sofia Grigoriadou",
year = "2020",
month = dec,
doi = "10.1111/bjh.17081",
language = "English",
volume = "191",
pages = "930--934",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "5",
}