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Article

Third-generation sequencing: A novel tool detects complex variants in the α-thalassemia gene.

Gene - 15 May 2022

Long Ju, Sun Lei, Gong Feifei, Zhang Chenghong, Mao Aiping, Lu Yulin, Li Jiaqi, Liu Enqi

Abstract excerpt

OBJECTIVE: Thalassemia is a monogenic disorder with a high carrier rate in the southern region of China. Most laboratories currently follow the protocol of testing hematologic indicators in individuals with positive hematologic indicators and then using the hot-spot mutation test kit. A novel thalassemia gene test is performed if there is a mismatch between the hematology and hot-spot mutation test results....

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PMID: 35181504
DOI: 10.1016/j.gene.2022.146332

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