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

Bozdogan, Sevcan; Unsal, Cagatay; Erkman, Hakan; Genc, Ahmet; ÖZALP, Özge; MÜSLÜMANOĞLU, Muhammed; Aslan, Huseyin

doi:10.3109/03630269.2012.662197

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

Bozdogan S. T., Unsal C., Erkman H., Genc A., ÖZALP Ö., MÜSLÜMANOĞLU M. H., ...Daha Fazla

Hemoglobin, cilt.36, sa.3, ss.283-288, 2012 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 36 Sayı: 3
Basım Tarihi: 2012
Doi Numarası: 10.3109/03630269.2012.662197
Dergi Adı: Hemoglobin
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.283-288
Anahtar Kelimeler: beta-Thalassemia (beta-thal), Codon 37, Nonsense mutation, Genetic counseling
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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. Copyright © Informa Healthcare USA, Inc.