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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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
1Department of Medical Genetics, Numune Education And Research Hospital, Adana, Turkey. sevcantb@gmail.com
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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