Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.

Jing Li, Yongfeng Su,Long Chen,Yani Lin,Kun Ru

International journal of laboratory hematology（2023）

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摘要

Our findings add to the DBA pathogenic variant database and demonstrate the clinical presentations of the DBA patients with RPS10/RPS26 mutations. It shows that next-generation sequencing is a powerful tool for the diagnosis of genetic diseases such as DBA.

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Diamond-Blackfan anemia, molecular diagnosis, NGS, RPS10, RPS26

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