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- W2790317943 abstract "Hemoglobinopati, otozomal resesif geçişli monogenik bozuklukların en sık görülen grubudur. Hemoglobin (Hb) molekülünün alfa (α) ve beta (β) globin zincirlerini kodlayan genlerde mutasyonlar veya delesyonlar ile karakterizedir ve genel olarak anormal hemoglobin ve talasemi olarak sınıflandırılır. Günümüzde, anormal hemoglobin ve talasemi mutasyonların tespiti için çeşitli yöntemler kullanılmaktadır. Mutasyon tespitindeki teknolojik ilerlemelere rağmen, mutasyonların taranmasında doğru tanıya ulaşabilmek için hematolojik ve moleküler tekniklerin birlikte kullanılması gerekir. Bu derlemede, mevcut standart hematolojik teknikler ve tanı yöntemleri ile yeni moleküler teknikler hakkında bilgi verdik." @default.
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- W2790317943 date "2017-12-15" @default.
- W2790317943 modified "2023-10-17" @default.
- W2790317943 title "Molecular Diagnostics Methods of Thalassemia and related hemoglobinopathies: Present and Future" @default.
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