Journal article
α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T)
Abstract
We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal).
Authors
Waye JS; Eng B; Dutly F; Frischknecht H
Journal
Hemoglobin, Vol. 33, No. 6, pp. 519–522
Publisher
Taylor & Francis
Publication Date
December 2009
DOI
10.3109/03630260903333377
ISSN
0363-0269