Article
Determination of NUDT15 variants by targeted sequencing can identify compound heterozygosity in pediatric acute lymphoblastic leukemia patients.
Scientific reports - 1 Sept 2020
Yu Chih-Hsiang, Chang Ya-Hsuan, Wang Der-Shiun, Jou Shiann-Tarng, Lin Chien-Yu, Lin Kai-Hsin, Lu Meng-Yao, Raghav Lovely, Chang Hsiu-Hao, Wu Kang-Hsi, Chou Shu-Wei, Ni Yu-Ling, Lin Dong-Tsamn, Lin Shu-Wha, Chen Hsuan-Yu, Yang Yung-Li
Abstract excerpt
Mercaptopurine intolerance is an adverse effect of mercaptopurine administration in pediatric acute lymphoblastic leukemia. Recently, NUDT15 variants were identified as a major determinant of mercaptopurine intolerance. Two NUDT15 variants, c.36_37insGGAGTC and c.415C > T, are located on exons 1 and 3, respectively. Patients with heterozygous c.36_37insGGAGTC and c.415C > T can be either compound heterozygous...
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