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

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 examination of...

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Detalles Bibliográficos
Autores principales:	Polokhov, Dmitrii, Fedorova, Daria, Ignatova, Anastasiya, Ponomarenko, Evgeniya, Rashevskaya, Elena, Martyanov, Alexey, Podoplelova, Nadezhda, Aleksenko, Maxim, Mersiyanova, Irina, Seregina, Elena, Poletaev, Aleksandr, Truchina, Ekaterina, Raykina, Elena, Plyasunova, Svetlana, Novichkova, Galina, Zharkov, Pavel, Panteleev, Mikhail
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091655/ https://www.ncbi.nlm.nih.gov/pubmed/37041648 http://dx.doi.org/10.1186/s13023-023-02675-9

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