一种新的α1-球蛋白变异体 Hb Ormylia [HBA1:c.63C > G; p.His21Gln]。希腊北部 11 个病例的报告

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Maria Vousvouki, Evangelia-Eleni Delaki, Effrosyni Boutou, Eleni Yfanti, Genovefa Mantzou, Christina Karipidou, Athanasios Vyzantiadis, Athina Efstathiou, Maria Dimopoulou, Efthymia Vlachaki, Stamatia Theodoridou
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引用次数: 0

摘要

本报告首次在来自希腊查基迪基(Chalkidiki)奥米利亚(Ormylia)一个小村庄的 11 名希腊人中发现了一种新型 α1-球蛋白变异体 Hb Ormylia。这种新的基因变异导致产生...
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece
The first identification of a novel α1-Globin variant, Hb Ormylia in 11 Greeks originating from a small village, Ormylia, Chalkidiki, Greece is reported. The new genetic variant leads to the produc...
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来源期刊
Hemoglobin
Hemoglobin 医学-生化与分子生物学
CiteScore
1.70
自引率
10.00%
发文量
59
审稿时长
3 months
期刊介绍: Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders
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