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

CONCLUSION: 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.PMID:37376976 | DOI:10.1111/ijlh.14126
Source: International Journal of Laboratory Hematology - Category: Hematology Authors: Source Type: research