Article
Identification of mutations in patients with acquired pure red cell aplasia.
Acta biochimica et biophysica Sinica - 1 Jul 2018
Zhang Xinchao, Shi Yi, Song Lingjun, Shen Chang, Cai Qi, Zhang Zhou, Wu Jun, Fu Guohui, Shen Weiwei
Abstract excerpt
Idiopathic acquired pure red cell aplasia (PRCA) is a rare, autoimmune-related disease. This study aimed to describe the previously unidentified DNA alterations associated with PRCA. Here, next generation sequencing using a panel containing 295 critical genes was applied to detect potentially pathogenic mutations in four patients with PRCA. A total of 529 mutations were identified and further classified into...
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