When a synonymous mutation breaks the silence in a thalassaemia patient.

Abstract excerpt

Synonymous mutations were considered to lack functional roles in human diseases; however, distinguishing deleterious synonymous mutations from benign ones is still a challenge. In this article, we identified a deleterious synonymous mutation β-codon 16 (C>T). HBB: c.51C>T, in compound heterozygous form with known β-thalassaemia mutation patients who clinically presented as non-transfusion-dependent thalassaemia...

Topics

• Humans
• beta-Thalassemia
• Silent Mutation
• Thalassemia
• Erythrocytes
• Mutation
• Codon