移码突变
地中海贫血
色素减退
黄疸
贫血
突变
医学
遗传学
生物
内科学
基因
作者
Cuili Yao,Long Chen,Jingting Ma,Na Li,Lin Jiang,Lina Huang,Yani Lin,Jun Xue
出处
期刊:Hemoglobin
[Taylor & Francis]
日期:2024-05-03
卷期号:48 (3): 182-185
标识
DOI:10.1080/03630269.2024.2376588
摘要
We reported a rare β-thalassemia patient, a 41-year-old Chinese male with small cell hypopigmentation anemia, jaundice and splenomegaly as the main clinical symptoms. By using Next-Generation Sequencing (NGS), we identified a novel
科研通智能强力驱动
Strongly Powered by AbleSci AI