Turk J Hematol. 2021; 38(3): 241-243 | DOI: 10.4274/tjh.galenos.2021.2020.0749

A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia

Mehmet Baysal¹, Nihan Alkış¹, Hakan Gürkan², Ahmet Muzaffer Demir^3
1Bursa City Hospital, Clinic of Hematology, Bursa, Turkey
²Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
³Trakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey

Keywords: Hereditary hemorrhagic telangiectasia, ACVRL1 mutation, Cirrhosis, Epistaxis, Anemia

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Herediter Hemorajik Telenjiektazi ve Sirozu Olan bir Hastada ACVRL1 Geninde Saptanan Yeni Bir Varyant

Mehmet Baysal¹, Nihan Alkış¹, Hakan Gürkan², Ahmet Muzaffer Demir^3
1Bursa City Hospital, Clinic of Hematology, Bursa, Turkey
²Trakya University Faculty of Medicine, Department of Medical Genetics, Edirne, Turkey
³Trakya University Faculty of Medicine, Department of Hematology, Edirne, Turkey

Anahtar Kelimeler: Herediter hemorajik telenjiektazi, ACVRL1 mutasyonu, Siroz, Epistaksis, Anemi

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