Journals / Turkish Journal of Medical Sciences / 2005 / Cilt: 35 - Sayı: 3

Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia

Pages
175–177
Publication Date
2005-03-01
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing

📌 3 Key Takeaways

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Objective & Hypothesis:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
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Key Findings & Data:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
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Conclusion & Impact:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Turk J Med Sci 2005 · 35(3): 175-177. Full text: pdf Other articles published in the same issue: Turk J Med Sci · vol.35

Abstract

Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing

Özet

Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing

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Cite This Article

KAYIŞLI, Ö. G., KESER, İ., CANATAN, D., ŞANLIOĞLU, A., ÖZEŞ, O. N., LÜLECİ, G. (2005). Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia. Turkish Journal of Medical Sciences, Cilt: 35 - Sayı: 3, 175–177. https://ajindex.com/articles/723703

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References (6)

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  2. Newton CR, Graham A, Heptinstall LE et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2305-2316, 1989.
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  4. Tadmouri GO, Tuzmen S, Ozcelik H et al. Molecular and population genetic analyses of beta-thalassemia in Turkey. Am J Hematol 57: 215-20, 1998. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2: 245- 255, 2001.
  5. Keser I, Sanlioglu AD, Manguoglu E et al. Molecular analysis of beta thalassemia and sickle cell anemia in Antalya. Acta Haem 111: 205-210, 2004.
  6. Guz K, Dedeoğlu N, Luleci G. The frequency and medical effect of consanguineous marriages in Antalya, Turkey. Heriditas 111: 79- 83, 1989.