Browsing by Author "Büyükdoğan, Murat"
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Beta globin mutations in Turkish, northern Iraqi and albanian patients with beta thalassemia major
Hançer, Veysel Sabri; Fışgın, Tunç; Büyükdoğan, Murat; Bozkurt, Ceyhun; Lako, Sotiraq (Pagepress Publ, 2018)The mutation detection of beta thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The b globin gene has 3 exons and 2 introns, involved in beta-thalassemic pathogenesis. ... -
The first congenital disorders of glycosylation patient (fetus) with homozygous cog5 c.95t>g variant
Büyükdoğan, Murat; Hançer, Veysel Sabri; Sucak, Ayhan (Karger, 2023)Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides. Case Presentation: In this research, ... -
A novel ganciclovir resistance mutation in the UL97 gene of the HHV-5 in an adult hematopoietic stem cell transplant recipient
Hançer, Veysel Sabri; Sağlam Yarımcan, Filiz; Büyükdoğan, Murat; Akı, Şahika Zeynep; Öksüz, Burcu; Acar, Kadir; Acar, Muradiye; Bulut, Pelin (Future Medicine Ltd, 2017)Therapeutic management of cytomegalovirus (CMV) disease in hematopoietic stem cell transplantation patients can become a challenge because of the emergence of anti-CMV drug resistance. This case report presents a patient ... -
Prevalence of human papilloma virus types in Turkish and Albanian women
Hançer, Veysel Sabri; Büyükdoğan, Murat; Bylykbashi, Ilta; Öksüz, Burcu; Acar, Muradiye (Wolters Kluwer Medknow Publications, 2018)Background: Human papilloma virus (HPV) infection is the major etiologic agent of cervical carcinoma. The aim of this study was to determine the prevalence of HPV infection and genotype distribution in cervical swabs from ...
