Genesis of a beta(0) thalassemia

In this patient with beta(0) thalassemia, mutation of a single base in the 39th codon (C→U), changed its triplet code from CAG (glycine) to UAG (stop), resulting in the production of a stop codon, preventing further extension of the growing beta chain.

Reproduced with permission from: Takeshita, K, Forget, BG, Scarpa, A Benz, EJ, Jr. Intranuclear defects in Beta-globin mRNA accumulation due to a premature translation termination codon. Blood 1984; 64:13. Copyright © 1984 American Society of Hematology.

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Genesis of a beta(0) thalassemia