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A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
Br J Haematol. 2023 Dec;203(5):852-859. doi: 10.1111/bjh.19023. Epub 2023 Aug 23.
Br J Haematol. 2023.
PMID: 37610030
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P, Savoia A, Faleschini M.
Barozzi S, et al.
Ann Hematol. 2023 Mar;102(3):677-679. doi: 10.1007/s00277-022-05079-0. Epub 2022 Dec 21.
Ann Hematol. 2023.
PMID: 36539614
No abstract available.
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