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TÜBİTAK

2017

Mutation

Articles 1 - 2 of 2

Full-Text Articles in Medicine and Health Sciences

Development Of A New Real-Time Pcr Screening Kit For Hbs And Common Beta-Thalassemia Mutations Observed In Turkey, Derya Kan Karaer, Mehmet Ali̇ Ergün, Hati̇ce Ilgin Ruhi̇, Jale Öztürk, Hali̇l Kara, Deni̇z Rei̇soğlu Çakmak, Tali̇hanur Aydoğmuş, Ferda Emri̇ye Perçi̇n Jan 2017

Development Of A New Real-Time Pcr Screening Kit For Hbs And Common Beta-Thalassemia Mutations Observed In Turkey, Derya Kan Karaer, Mehmet Ali̇ Ergün, Hati̇ce Ilgin Ruhi̇, Jale Öztürk, Hali̇l Kara, Deni̇z Rei̇soğlu Çakmak, Tali̇hanur Aydoğmuş, Ferda Emri̇ye Perçi̇n

Turkish Journal of Medical Sciences

Background/aim: IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS are mutations covering 76% of all the β-globin mutations in the Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these mutations using the TaqMan probe method. Materials and methods: This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, and 21 controls with known mutations. Results: We designed a kit containing the IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 (G>A), IVSII-745 (C>G), IVSI-1 (G>A), and HbS …


Egfr, Kras, And Braf Mutational Profiles Of Female Patients With Micropapillary Predominant Invasive Lung Adenocarcinoma, Funda Demi̇rağ, Aydin Yilmaz, Ni̇lgün Yilmaz Demi̇rci̇, Ülkü Yilmaz, Yurdanur Erdoğan Jan 2017

Egfr, Kras, And Braf Mutational Profiles Of Female Patients With Micropapillary Predominant Invasive Lung Adenocarcinoma, Funda Demi̇rağ, Aydin Yilmaz, Ni̇lgün Yilmaz Demi̇rci̇, Ülkü Yilmaz, Yurdanur Erdoğan

Turkish Journal of Medical Sciences

Background/aim: This study aimed to analyze EGFR, KRAS, and BRAF mutations in females with micropapillary predominant invasive lung adenocarcinoma and their relationships with immunohistochemical and clinicopathological patterns.Materials and methods: A total of 15 females with micropapillary lung adenocarcinoma were selected. Mutational analysis of the EGFR, KRAS, and BRAF genes was carried out. Information regarding the demographic data, tumor size, treatment, and survival time for each patient was collated, and the predominant cell type, secondary architectural growth patterns, psammoma bodies, necrosis, and visceral pleural and angiolymphatic invasions were evaluated.Results: We identified EGFR mutation in six cases, KRAS mutation in three cases, …