Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis
Runhong Xu, Hui Li, Yi Song, Jun Du, Jin Jian-guo, Yayun Qin, Yufei Jiang, Tangxinzi Gao, Chengcheng Zhang, Meiqi Yi, Yinyin Liu, Wanli Meng, Jiaqi Li, Jieping Song
Topics & Concepts
Multiplex ligation-dependent probe amplificationSanger sequencingProbandGeneticsThalassemiaBiologyPolymerase chain reactionDNA sequencingMultiplexGeneMolecular biologyMultiplex polymerase chain reactionMutationExonHemoglobinopathies and Related DisordersGenomics and Rare DiseasesBlood groups and transfusion