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Article

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.

Human mutation - 1 Dec 2007

Cmejla Radek, Cmejlova Jana, Handrkova Helena, Petrak Jiri, Pospisilova Dagmar

Abstract excerpt

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies are also present. Currently two genes are associated with the DBA phenotype--the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24...

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Source

Identifiers

PMID: 17647292
DOI: 10.1002/humu.20608

Genes

RPS17
RPS24

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.PMID 17647292Read ↗

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.Semantic proximity Read ↗

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.Semantic proximity Read ↗

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein S19 gene mutations in patients with diamond-blackfan anemia and identification of ribosomal protein S19 pseudogenes.Semantic proximity Read ↗

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.Semantic proximity Read ↗

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19Semantic proximity Read ↗

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.Semantic proximity Read ↗

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

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