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

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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Main Authors: 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: Article
Language:English
Published: BMC 2023-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
SLFN14
Inherited thrombocytopenia
macrothrombocytopenia
Platelet dysfunction
Bleeding
Platelet function tests
Online Access:https://doi.org/10.1186/s13023-023-02675-9

Internet

https://doi.org/10.1186/s13023-023-02675-9

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