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针对性长读序列的临床应用在产前β-thalassemia测试和遗传咨询中

Hui-Lin Chin1,2, Miles C Benton3, Lin Yang3

  • 1Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore.

Molecular genetics & genomic medicine
|September 23, 2023
PubMed
概括

遗传学家确定了一个KLF1变异,而不是HBB突变,是新加坡人的血红蛋白A2 (HbA2) 升高的原因. 这一发现澄清了计划生育和产前诊断的风险.

关键词:
贝塔 - thalassemia 这种疾病.载体测试 载体测试 载体测试增加了HbA2的水平.长阅读序列的测序修饰器的变体 修饰器的变体

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