Article
Beta-thalassemia in Bulgaria.
Hemoglobin - 1 Jan 1990
Petkov G H, Efremov G D, Efremov D G, Dimovski A, Tchaicarova P, Tchaicarov R, Rogina B, Agarwal S, Kutlar A, Kutlar F
Abstract excerpt
Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different beta-thalassemia mutations. The codon 39 (C----T) and IVS-I-110 (G----A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2%. This broad spectrum of...
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