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Article

Molecular pathogenesis in Diamond-Blackfan anemia.

International journal of hematology - 1 Oct 2010

Ito Etsuro, Konno Yuki, Toki Tsutomu, Terui Kiminori

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a congenital anemia and a broad spectrum of developmental abnormalities that presents soon after birth. The anemia is due to a failure of erythropoiesis with normal platelet and myeloid lineages. Approximately 10-20% of DBA cases are inherited. Genetic studies have identified heterozygous mutations in at least one of eight ribosomal protein genes in up to 50% of cases. Mutations...

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Topics

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Share to Anemia, Diamond-Blackfan
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20882441
DOI: 10.1007/s12185-010-0693-7

Genes

RPL5
RPL11
RPS14

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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