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Two rare mutations in Turkey: IVS I.130(G–C) and IVS II.848(C–A)

✍ Scribed by N. NAL; A. E. MANGUOGLU; C. F. SARGIN; I. KESER; A. KUPESIZ; A. YESILIPEK; G. LULECI

Book ID
108701688
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
162 KB
Volume
27
Category
Article
ISSN
1751-5521

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A rare mutation [IVS-I-130 (G-A)] in a T
A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient
✍ Tadmouri, G.O.; Bileno?lu, O.; Kantarc?, S.; Kayserili, H.; Perrin, P.; Ba?ak, A 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 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