Article
combination of IVS2.849 A-G witH IVS1.1 G-A: a mutation of beta-globin gene in a Turkish beta-thalessemia major patient.
Pediatric hematology and oncology - 1 Jun 2005
Manguoğlu Esra, Sargin Canan Figen, Nal Nevra, Keser Ibrahim, Küpesiz Alphan, Yeşilipek Akif, Lüleci Güven
Abstract excerpt
Beta-thalassemia, which is an autosomal recessive disease, is among the most common hemoglobinopathies in Antalya, Turkey. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, which is mostly composed of point mutations and, only in very rare cases, a deletion or an insertion causes affected or carrier phenotypes. Reverse dot blot hybridization (RDBH) method is used for screening...
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