@article{647d35090ab7407abe270ef4e6df1c46,
title = "GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting",
author = "Shoshana Revel-Vilk and Ela Shai and Ernest Turro and Nivin Jahshan and Esti Hi-Am and Galia Spectre and Hagit Daum and Yossef Kalish and Karina Althaus and Andreas Greinacher and Chaim Kaplinsky and Shai Izraeli and Rutendo Mapeta and Deevi, {Sri V.V.} and Danuta Jarocha and Ouwehand, {Willem H.} and Kate Downes and Mortimer Poncz and David Varon and Lambert, {Michele P.}",
note = "Funding Information: The authors thank Sara Israels and Eileen McMillan-Ward (technician), Research Institute in Oncology and Hematology, University of Manitoba, Winnipeg, Manitoba, Canada, for their help in the interpretation of the platelet electron microscopic images of F1. Funding for the NIHR BioResource sequencing project was provided by the National Institute for Health Research (NIHR; grant RG65966). The NIHR BioResource projects were approved by Research Ethics Committees in the United Kingdom and appropriate national ethics authorities in non-UK enrollment centers. This study makes use of data generated by the NIHR BioResource. A full list of investigators who contributed to the generation of the data is available at https://bioresource.nihr.ac.uk/researchers/researchers/acknowledgement/.",
year = "2018",
month = oct,
day = "25",
doi = "10.1182/blood-2018-04-845545",
language = "אנגלית",
volume = "132",
pages = "1851--1854",
journal = "Blood",
issn = "0006-4971",
publisher = "Elsevier B.V.",
number = "17",
}