A Novel Mutation at <i>HBA1</i>: c.349G>T Causing α-Thalassemia in a Chinese Family.

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第一作者： Zhenzhen,Yin

第一单位： Nanfang College, Guangzhou, Guangdong Province, China.

作者： Zhenzhen,Yin ^[1] ; Yuqi,Hao ^[2] ; Xiaoyan,Huang ^[3] ; Xiaohang,Chen ^[4] ; Shiping,Chen ^[3] ; Gaochi,Li ^[4] ; Chuyan,Chen ^[1] ; Fengxiang,Wei ^[4]

作者单位： Nanfang College, Guangzhou, Guangdong Province, China. ^[1] Anhui Jinzhai Technical College (Anhui Jinzhai Vocational School), Liuan, Anhui Province, China. ^[2] Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, Guandong Province, China. ^[3] The Genetics Laboratory, Shenzhen Longgang District Maternity and Child Healthcare Hospital, Shenzhen, Guandong Province, China. ^[4]

关键词 HBA1 gene novel variant α-Thalassemia (α-thal)

主题词女(雌)性(Female);杂合子(Heterozygote);人类(Humans);婴儿, 新生(Infant, Newborn);突变(Mutation);α地中海贫血(alpha-Thalassemia);β地中海贫血(beta-Thalassemia)

DOI 10.1080/03630269.2021.1925292

PMID 34082638

发布时间 2022-12-07

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