Quantitative assessment of the transcriptional impact of mutations in the 3'untranslated region of the human beta-globin gene: application to the +1480 C-->G mutation.
The +1480 C -->G mutation in the 3' untranslated region (UTR) of the human beta-globin gene has been associated with beta-thalassemia. A previously vali- dated in vitroexpression model used to assess the transcriptional impact of this 3'UTR mutation demonstrated that it has no effect on beta-globin gene expression.
Irenge
Léonid M
LM
Robert
Annie
A
Gala
Jean-Luc
JL
D002460:Cell Line; D003596:Cytosine; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006147:Guanine; D006801:Humans; D009154:Mutation; D014158:Transcription, Genetic; D020506:Untranslated Regions / Q000096:biosynthesis / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
D020506:Untranslated Regions; D006147:Guanine; D003596:Cytosine; D005914:Globins