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Article

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

International journal of laboratory hematology - 1 Oct 2023

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

Abstract excerpt

INTRODUCTION: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by erythroid aplasia, physical malformation, and cancer predisposition. Twenty ribosomal protein genes and three non-ribosomal protein genes have been identified associated with DBA. METHODS: To investigate the presence of novel mutations and gain a deeper understanding of the molecular mechanisms of...

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PMID: 37376976
DOI: 10.1111/ijlh.14126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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