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Article

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Seminars in hematology - 1 Apr 2011

Farrar Jason E, Dahl Niklas

Abstract excerpt

Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone marrow failure syndrome characterized primarily by anemia and physical malformations. Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and...

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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: 21435509
DOI: 10.1053/j.seminhematol.2011.02.003
PMCID: PMC3078697

Genes

RPL11
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
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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