The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing

Hereditary spherocytosis (HS) with hemolysis, splenomegaly, and jaundice as the main clinical symptoms varied in different population and SPTB mutated rate is common except for ANK1 in the Chinese population, whereas only a few studies have been reported. Here, 11 Chinese pediatric patients with new...

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Veröffentlicht in:Journal of human genetics 2021-12, Vol.66 (12), p.1153-1158
Hauptverfasser: Fan, Junjie, Yao, Lilan, Lu, Daru, Yao, Yanhua, Sun, Yina, Tian, Yafei, Mou, Li, Chen, Linbo, Zhao, Letian, Qiao, Shenglong, Hu, Shaoyan, Zhu, Yijian
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