Literature DB >> 22385009

Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.

Sevcan Tug Bozdogan1, Cagatay Unsal, Hakan Erkman, Ahmet Genc, Ozge Ozalp Yuregir, Muhammed Hamza Muslumanoglu, Huseyin Aslan.   

Abstract

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.

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Year:  2012        PMID: 22385009     DOI: 10.3109/03630269.2012.662197

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  β-Thalassemia Mutation At Codon 37 (Tgg>>Tga) Detected In A Turkish Family.

Authors:  Derya Güleç; Sibel Bilgili; Nuriye Uzuncan; Giray Bozkaya; Nur Soyer; Baysal Karaca
Journal:  Turk J Haematol       Date:  2013-09-05       Impact factor: 1.831

  1 in total

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