Mahdieh Taghizadeh
Hematology & Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran| Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran
[ 1 ] - Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of b-Thalassemic Patients
Background: b-Thalassemia is a common autosomal recessive disorder in human caused by a defect in b-globin chain synthesis. The most common mutations causing b-Thalassemia have been found to be splicing mutations. Most of which activate aberrant cryptic splicing/sites without complete disruption of normal splicing. IVSI-110 mutation, a common splicing mutation, leads to a 90% reduction of norma...
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