Herediter Hemorajik Telenjiektazi ve Sirozu Olan bir Hastada ACVRL1 Geninde Saptanan Yeni Bir Varyant
Mehmet Baysal1, Nihan Alkış1, Hakan Gürkan2, Ahmet Muzaffer Demir31Bursa City Hospital, Clinic of Hematology, Bursa, Turkey2Trakya 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
A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia
Mehmet Baysal1, Nihan Alkış1, Hakan Gürkan2, Ahmet Muzaffer Demir31Bursa City Hospital, Clinic of Hematology, Bursa, Turkey2Trakya 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
Mehmet Baysal, Nihan Alkış, Hakan Gürkan, Ahmet Muzaffer Demir. A Novel Variant in the ACVRL1 Gene in a Patient with Cirrhosis and Hereditary Hemorrhagic Telangiectasia. . 2021; 38(3): 241-243
Sorumlu Yazar: Mehmet Baysal, Türkiye
Sorumlu Yazar: Mehmet Baysal, Türkiye
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