A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction.
In a patient with a beta-thalassemia intermedia, a mutation was identified in the second intron of the human beta-globin gene. The U-->G mutation is located within the polypyrimidine tract at position -8 upstream of the 3' splice site. In vivo, this mutation leads to decreased levels of the hemoglob...
Guardat en:
| Publicat a: | Nucleic Acids Res |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
1995
|
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC307219/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7567451/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/23.17.3419 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|