A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China
Xu Chen, Mingyue Luo, Lei Pan, Yu-Ting Huang, Zehao Yan, Kai Shen, Guangxing Mai, Hui Liang, Jiaqi Li, Yi‐Wei Chen, Likuan Xiong
Topics & Concepts
Multiplex ligation-dependent probe amplificationGenotypeBiologyGeneticsMolecular biologyThalassemiaDNA sequencingGenePoint mutationMultiplex polymerase chain reactionGene mutationPolymerase chain reactionMutationExonHemoglobinopathies and Related DisordersBlood groups and transfusionGenomics and Rare Diseases