Article
Development of a genomic DNA reference material panel for thalassemia genetic testing.
International journal of laboratory hematology - 1 Oct 2020
Yin Zhenzhen, Qu Shoufang, Huang Chuanfeng, Chen Fang, Li Jianbiao, Chen Shiping, Ye Jingyu, Yang Ying, Zheng Yu, Zhang Xi, Yang Xuexi, Xie Longxu, Wei Jitao, Wei Fengxiang, Guo Jian, Huang Jie
Abstract excerpt
INTRODUCTION: Thalassemia is one of the most common autosomal recessive inherited diseases worldwide, and it is also highly prevalent and variable in southern China. Various types of genetic testing technologies have been developed for diagnosis and screening of thalassemia. Characterized genomic DNA reference materials (RMs) are necessary for assay development, validation, proficiency testing, and quality...
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