Article detail · 2012 · article
Nonsense β-Thalassemia Mutation at Codon 37 (TGG>TGA), Detected for the First Time in Three Turkish Cases
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- YÖKSİSYÖKSİS article record
- YÖKSİS venueHemoglobin
- Catalog match (ISSN)Hemoglobin
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- Semantic Scholarcitation count (not merged with OpenAlex)
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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1 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).