The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed

Abstract

We have observed a T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a β-thalassemia, but continued analyses have provided convincing evidence that this mutation is a simple polymorphism.

DOI: 10.1007/BF00218918

Cite this paper

@article{Divok1994TheTM, title={The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed}, author={Vladim{\'i}r Divok{\'y} and Erol Baysal and Reyhan {\"{O}ner and Mehmet Akif Ç{\"{u}r{\"{u}k and Emmitt L. D. Walker and Karel Indr{\'a}k and T. H. Huisman}, journal={Human Genetics}, year={1994}, volume={93}, pages={77-78} }