Article
The G----A mutation at position +22 3' to the Cap site of the beta-globin gene as a possible cause for a beta-thalassemia.
Hemoglobin - 1 Jan 1991
Oner R, Agarwal S, Dimovski A J, Efremov G D, Petkov G H, Altay C, Gurgey A, Huisman T H
Abstract excerpt
We describe the occurrence of a chromosome with a G----A mutation at position +22 relative to the Cap site that was found in five patients with beta-thalassemia. All patients had a common type of beta-thalassemia mutation on the second chromosome, namely the frameshift at codon 8 (-AA), the IVS-I-110 (G----A) and the IVS-II-1 (G----A) mutations. The beta genes of two patients, including the 5' and 3' untranslated...
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