Özlem GÜZELOĞLU KAYIŞLI, İbrahim KESER, Duran CANATAN, Ahter ŞANLIOĞLU, Osman Nidai ÖZEŞ, Güven LÜLECİ

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

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

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, iss.3.

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

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

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, iss.3.,

PDF

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  • for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215, 1988.
  • 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.
  • 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.
  • 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.
  • 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.
  • Guz K, Dedeoğlu N, Luleci G. The frequency and medical effect of consanguineous marriages in Antalya, Turkey. Heriditas 111: 79- 83, 1989.
Turkish Journal of Medical Sciences-Cover
  • ISSN: 1300-0144
  • Yayın Aralığı: 6
  • Yayıncı: TÜBİTAK
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