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A rare case of Moyamoya syndrome in a β-thalassemia major patient

✍ Scribed by Inati, Adlette; Tourjuman, Oulfat; Bizri, Diana; Dhayni, Raghida; Abbas, Hussein A.; Tfaili, Hassan; Akouri, Grace; Beydoun, Ahmad

Book ID
122096170
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
231 KB
Volume
51
Category
Article
ISSN
1079-9796

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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