A rare mutation [IVS-I-130 (G-A)] in a T
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Tadmouri, G.O.; Bileno?lu, O.; Kantarc?, S.; Kayserili, H.; Perrin, P.; Ba?ak, A
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Article
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2000
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John Wiley and Sons
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English
⚖ 29 KB
Here we describe the identification of the rare -thalassemia mutation IVS-I-130 (G-A) for the first time in Turkey. The hematological evaluation of the patient showed classical signs of -thalassemia major requiring regular blood transfusions every 30-35 days. DNA analysis was carried out using rev