Long-Read Sequencing Identified a Large Novel <i>δ</i>/<i>β</i>-Globin Gene Deletion in a Chinese Family.
第一作者:
Jianlong,Zhuang
第一单位:
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000 Fujian, China.
作者:
医学主题词
人类(Humans);β珠蛋白类(beta-Globins);男(雄)性(Male);δ珠蛋白类(delta-Globins);女(雌)性(Female);基因缺失(Gene Deletion);系谱(Pedigree);序列缺失(Sequence Deletion);中国(China);成年人(Adult);β地中海贫血(beta-Thalassemia);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)
DOI
10.1155/2023/2766625
PMID
40225154
发布时间
2025-09-17
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Human mutation
2766625页
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