. Baskıdaki Makaleler: TJH-20846 | DOI: 10.4274/tjh.galenos.2025.2025.0093  

ABCG5 Geninde Bileşik Heterozigot Varyantlar ile Sitosterolemi: İmmün Olmayan Hemoliz ve Makrotrombositopeninin Nadir Bir Nedeni

Başak Bostankolu Değirmenci1, Hamza Polat2
1Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
2Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Anahtar Kelimeler: Sitosterolemi, hemoliz, ABCG5, makrotrombositopeni


Sitosterolemia with Compound Heterozygous Variants in the ABCG5 Gene: A Rare Cause of Non-immune Hemolysis and Macrothrombocytopenia

Başak Bostankolu Değirmenci1, Hamza Polat2
1Ankara Atatürk Sanatoryum Training and Research Hospital, Clinic of Hematology, Ankara, Türkiye
2Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Türkiye

Keywords: Sitosterolemia, hemolysis, ABCG5, macrothrombocytopenia




Sorumlu Yazar: Başak Bostankolu Değirmenci


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