| Literature DB >> 17654075 |
Antonio Amato1, Maria Pia Cappabianca, Donatella Ponzini, Silvana Rinaldi, Paola Di Biagio, Enrica Foglietta, Paola Grisanti, Fabrizio Mastropietro.
Abstract
A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.Entities:
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Year: 2007 PMID： 17654075 DOI： 10.1080/03630260701462055
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849