Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Abstract Background Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have been reported. Methods A comprehensive clinical and laboratory examinat...

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Bibliografiske detaljer

Principais autores:	Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov, Mikhail Panteleev
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2023-04-01
Serier:	Orphanet Journal of Rare Diseases
Fag:	SLFN14 Inherited thrombocytopenia macrothrombocytopenia Platelet dysfunction Bleeding Platelet function tests
Online adgang:	https://doi.org/10.1186/s13023-023-02675-9
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