Article
Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the β-globin gene.
Hemoglobin - 1 Jan 2013
Ropero Paloma, González Fernando A, Cela Elena, Beléndez Cristina, Cervera Aurea, Martínez-Nieto Jorge, de la Fuente-Gonzalo Félix, Vinuesa Lara, Villegas Ana, Díaz-Mediavilla Joaquín
Abstract excerpt
In the 5' untranslated region (5'UTR), which is transcribed but not translated and is involved in posttranscriptional regulation of the gene promoting and stabilizing the mRNA translation, several mutations associated with mild β-thalassemia (β-thal) have been described. One of these, the +20 (C>T) mutation, is described in the HbVar database as a mutation responsible for β(+)-thal. In heterozygote cases, it...
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