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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Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2023-04-01
Цуврал:	Orphanet Journal of Rare Diseases
Нөхцлүүд:	SLFN14 Inherited thrombocytopenia macrothrombocytopenia Platelet dysfunction Bleeding Platelet function tests
Онлайн хандалт:	https://doi.org/10.1186/s13023-023-02675-9
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!