Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12887-019-1435-5.pdf
Reference30 articles.
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2. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010;5:1–15.
3. Zhang J, Yan J, Zeng F. Recent Progress on genetic diagnosis and therapy for β-thalassemia in China and around the world. Hum Gene Ther. 2018;29:197–203.
4. Asadov C, Alimirzoeva Z, Mammadova T, Aliyeva G, Gafarova S, Mammadov J. β-Thalassemia intermedia: a comprehensive overview and novel approaches. Int J Hematol. 2018;108:5–21.
5. Vinciguerra M, Passarello C, Cassara F, Leto F, Cannata M, Calvaruso G, Renda D, Maggio A, Giambona A. Coheredity of a new silent mutation: c.-29G>T, with a severe beta-thal mutation in a patient with beta-thalassemia intermediate. Int J Lab Hematol. 2018;40:e17–20.
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