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Article

[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jul 2015

Toki Tsutomu, Ito Etsuro

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome, characterized by red blood cell aplasia. Macrocytic anemia is a prominent feature of DBA but the disease is also characterized by growth retardation and congenital anomalies that are present in approximately 40% of affected patients. DBA is associated with single, monoallelic, inactivating mutations in ribosomal protein (RP) genes....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26251151
DOI: 10.11406/rinketsu.56.867

Genes

RPL11
RPL26
RPL27
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS27
RPS7

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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