α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G\textgreaterA and G\textgreaterT). Waye, J. S., Eng, B., Dutly, F., & Frischknecht, H. Hemoglobin, 33(6):519–522, December, 2009. MAG ID: 2048803265doi abstract bibtex We report the identification of two different mutations involving the first nucleotide of intron 1 of the α2-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 α+-thalassemia (α+-thal).
@article{waye_-thalassemia_2009,
title = {α-{Thalassemia} {Caused} by {Two} {Novel} {Splice} {Mutations} of the α2-{Globin} {Gene}: {IVS}-{I}-1 ({G}{\textgreater}{A} and {G}{\textgreater}{T})},
volume = {33},
doi = {10.3109/03630260903333377},
abstract = {We report the identification of two different mutations involving the first nucleotide of intron 1 of the α2-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 α+-thalassemia (α+-thal).},
number = {6},
journal = {Hemoglobin},
author = {Waye, John S. and Eng, Barry and Dutly, Fabrizio and Frischknecht, Hannes},
month = dec,
year = {2009},
doi = {10.3109/03630260903333377},
pmid = {19958200},
note = {MAG ID: 2048803265},
pages = {519--522},
}
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