Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques. Joly, P., Pegourie, B., Courby, S., Barro, C., Besson, G., Cohen, L., Garcia, C., & Francina, A. Hemoglobin, 32(4):411–417, January, 2008. MAG ID: 2083251301doi abstract bibtex We report two new point mutations causing α-thalassemia (α-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the α1-globin gene [α123(H6)Ala→Pro, GCC\textgreaterCCC (α1)] and leads to the substitution of a proline residue in the H helix. The resulting unstable hemoglobin (Hb) variant has been named Hb Voreppe. The second is a frameshift of the α2 gene due to a deletion (−C), either of the third base of codon 112 or of the first base of codon 113, that causes a premature stop codon at position 132.
@article{joly_two_2008-1,
title = {Two {New} α-{Thalassemia} {Point} {Mutations} that are {Undetectable} by {Biochemical} {Techniques}},
volume = {32},
doi = {10.1080/03630260802173791},
abstract = {We report two new point mutations causing α-thalassemia (α-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the α1-globin gene [α123(H6)Ala→Pro, GCC{\textgreater}CCC (α1)] and leads to the substitution of a proline residue in the H helix. The resulting unstable hemoglobin (Hb) variant has been named Hb Voreppe. The second is a frameshift of the α2 gene due to a deletion (−C), either of the third base of codon 112 or of the first base of codon 113, that causes a premature stop codon at position 132.},
number = {4},
journal = {Hemoglobin},
author = {Joly, Philippe and Pegourie, Brigitte and Courby, Stéphane and Barro, Claire and Besson, Gérard and Cohen, Laura and Garcia, Caroline and Francina, Alain},
month = jan,
year = {2008},
doi = {10.1080/03630260802173791},
pmid = {18654892},
note = {MAG ID: 2083251301},
pages = {411--417},
}
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