[在β-环球蛋白基因集群中发现罕见的3.5kb删除]
Yun-Hua Fan1, Cui-Lin Duan2,3, Sai-Li Luo1
1Department of Clinical Laboratory Examination, People's Hospital of Dehong Prefecture, Mangshi 678400, Yunnan Province, China.
Zhongguo shi yan xue ye xue za zhi
|February 28, 2025
概括
在β-环球蛋白基因集群中罕见的3.5kb删除可以导致轻度贫血. 复合突变,包括这种删除,可能导致中度至重度的β-thalassemia,突出显示在疑似病例中需要进行基因检测.
科学领域:
- 遗传学 是一个遗传学.
- 血液学 血液学 血液学
- 分子生物学分子生物学
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