Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome
一例伴有严重出血综合征的患者出现巨血小板减少症,并发现一种新的SLFN14突变。
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02675-9
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