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新生儿β-地中海贫血症筛查发现一种涉及新型β-球蛋白基因突变（HBB:c.336dup）的复杂基因型

IF 1.2 4区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Hemoglobin Pub Date : 2024-04-02 DOI:10.1080/03630269.2024.2328220
John S. Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E. Nfonsam
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引用次数: 0

摘要

新生儿筛查发现，一名加拿大籍华裔婴儿的β-地中海贫血（β-thal）检测结果呈阳性。详细的家族研究表明，该婴儿是β-地中海贫血的复合杂合子。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup)
Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for th...
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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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