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[Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].

Zhongguo shi yan xue ye xue za zhi - 1 Dec 2012

Chen Yu-Mei, Ruan Min, Zou Yao, Guo Ye, Wang Shu-Chun, Chen Xiao-Juan, Zhang Li, Liu Tian-Feng, Zhu Xiao-Fan

Abstract excerpt

This study was aimed to explore the mutations of ribosomal protein (RP) genes in patients with Diamond Blackfan anemia (DBA). Twenty-one cases of DBA admitted in our hospital from Dec 2008 to Aug 2012 were screened by PCR for mutations in the nine known genes associated with DBA: RPS19, RPS24, RPS17, RPL5, RPL11, RPS7, RPL35a, RPS10 and RPS26. The results found that 8 patients (38.1%) with DBA had mutations in...

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Source

Identifiers

PMID: 23257444

Genes

RPL11
RPL5
RPS19
RPS10
RPS17
RPS24
RPS26
RPS7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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