We have located links that may give you full text access.
β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T].
Hemoglobin 2024 Februrary 30
We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB: c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB: c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 β0 -thal.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app