Hb L'Aquila [beta106(G8)Leu–\textgreaterVal, CTG–\textgreaterGTG]: a novel thalassemic hemoglobin variant. Amato, A., Cappabianca, M. P., Ponzini, D, Rinaldi, S., Di Biagio, P., Foglietta, E., Grisanti, P., & Mastropietro, F. Hemoglobin, 31(3):375–378, January, 2007. MAG ID: 2006401910doi abstract bibtex A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α/β-globin chain biosynthesis ratios.
@article{amato_hb_2007,
title = {Hb {L}'{Aquila} [beta106({G8}){Leu}--{\textgreater}{Val}, {CTG}--{\textgreater}{GTG}]: a novel thalassemic hemoglobin variant.},
volume = {31},
doi = {10.1080/03630260701462055},
abstract = {A new β-globin variant at codon 106 (CTG→GTG), and which we named Hb L'Aquila [β106(G8)Leu→Val], was detected by DNA analysis. The proband and her father presented with the features of a mild β+-thalassemia (thal), confirmed by their α/β-globin chain biosynthesis ratios.},
number = {3},
journal = {Hemoglobin},
author = {Amato, Antonio and Cappabianca, Maria Pia and Ponzini, D and Rinaldi, Silvana and Di Biagio, Paola and Foglietta, Enrica and Grisanti, Paola and Mastropietro, Fabrizio},
month = jan,
year = {2007},
doi = {10.1080/03630260701462055},
pmid = {17654075},
note = {MAG ID: 2006401910},
pages = {375--378},
}
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