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SLFN14 gene mutations associated with bleeding.
Stapley RJ, Pisareva VP, Pisarev AV, Morgan NV. Stapley RJ, et al. Platelets. 2020;31(3):407-410. doi: 10.1080/09537104.2019.1648781. Epub 2019 Aug 4. Platelets. 2020. PMID: 31378119 Free PMC article. Review. No abstract available.
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.
Montague SJ, Price J, Pennycott K, Pavey NJ, Martin EM, Thirlwell I, Kemble S, Monteiro C, Redmond-Motteram L, Lawson N, Reynolds K, Fratter C, Bignell P, Groenheide A, Huskens D, de Laat B, Pike JA, Poulter NS, Thomas SG, Lowe GC, Lancashire J, Harrison P, Morgan NV. Montague SJ, et al. J Thromb Haemost. 2024 Aug;22(8):2281-2293. doi: 10.1016/j.jtha.2024.02.021. Epub 2024 Mar 15. J Thromb Haemost. 2024. PMID: 38492852
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.
Almazni I, Chudakou P, Dawson-Meadows A, Downes K, Freson K, Mason J, Page P, Reay K, Myers B, Morgan NV; UK GAPP Study Group. Almazni I, et al. Platelets. 2022 Feb 17;33(2):320-323. doi: 10.1080/09537104.2021.1887470. Epub 2021 Feb 22. Platelets. 2022. PMID: 33616470 Free article.
13 results