Dergiler / 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

Sayfa
175–177
Yayın Tarihi
2005-03-01
DOI
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Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
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Temel Bulgular & Veri:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
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Sonuç & Katkı:Key Words: b-thalassemia, b-globin gene, insertion, frameshift mutation, DNA sequencing
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler: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

Özet

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

Abstract

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

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Bu Makaleye Atıf Yap

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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Kaynakça (6)

  1. Miller SA, Dykes DD, Polesky MF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215, 1988.
  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.
  3. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed syntesis with DNA polymerase. J Mol Biol 94: 441-446, 1975.
  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.