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Article

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.

Experimental & molecular medicine - 28 Mar 2014

Chae Hyojin, Park Joonhong, Lee Seungok, Kim Myungshin, Kim Yonggoo, Lee Jae-Wook, Chung Nack-Gyun, Cho Bin, Jeong Dae Chul, Kim Jiyeon, Kim Jung Rok, Park Geon

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions in the large and small ribosomal protein genes, and genetic aberrations have been detected in ∼50-60% of patients. In this study, nine Korean DBA patients were screened for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24675553
DOI: 10.1038/emm.2013.159
PMCID: PMC3972785

Genes

RPS19
RPS17
RPS26
RPL11
RPL5
RPS10
RPS24

Variants

Provenance

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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