A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype. Cornut, G., Weng, X., Robin, L., Catherine Lavoie, Lavoie, C., Marchand, S., & Soulières, D. Hemoglobin, 31(3):393–395, January, 2007. MAG ID: 2101570921doi abstract bibtex The β-globin gene of 306 newly diagnosed β-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a β+-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated β-globin or abnormal hemoglobin (Hb) was identified.
@article{cornut_new_2007,
title = {A new insertion mutation in the beta-globin gene [codons 45/46 (+{A})] resulting in a beta-thalassemia minor phenotype.},
volume = {31},
doi = {10.1080/03630260701462162},
abstract = {The β-globin gene of 306 newly diagnosed β-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a β+-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated β-globin or abnormal hemoglobin (Hb) was identified.},
number = {3},
journal = {Hemoglobin},
author = {Cornut, Gilbert and Weng, Xiaoduan and Robin, Louise and {Catherine Lavoie} and Lavoie, Catherine and Marchand, Sylvain and Soulières, Denis},
month = jan,
year = {2007},
doi = {10.1080/03630260701462162},
pmid = {17654079},
note = {MAG ID: 2101570921},
pages = {393--395},
}
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