Article
Report of Two Novel Thalassemia Variants, HBB: c.181delG and HBA1: c.121_126delAAGACC, in Chinese Individuals.
Hemoglobin - 1 Jan 2021
Chen Xinping, Lin Zhangli, Hu Junjie, Chen Shiping, Wen Shu, Wu Aizhu, Wu Hong, Huang Jiali, Wang Hanqiang, Sun Jun, Peng Zhiyu, Sun Yan, Fu Shengmiao
Abstract excerpt
In this study, we report two novel thalassemia variants detected in Chinese individuals using targeted NGS technology. We detected a novel frameshift variant, HBB: c.181delG, in a 32-year-old Chinese individual. This novel variant [a single nucleotide deletion at nucleotide 181 of codon 60 (-G)], was detected by targeted next generation sequencing (NGS), resulting in a stop codon at codon 60 in exon 2 of the HBB...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.