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Article

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Haematologica - 1 Feb 2010

Quarello Paola, Garelli Emanuela, Carando Adriana, Brusco Alfredo, Calabrese Roberto, Dufour Carlo, Longoni Daniela, Misuraca Aldo, Vinti Luciana, Aspesi Anna, Biondini Laura, Loreni Fabrizio, Dianzani Irma, Ramenghi Ugo

Abstract excerpt

BACKGROUND: Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic tr...

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Source

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Identifiers

PMID: 19773262
DOI: 10.3324/haematol.2009.011783
PMCID: PMC2817022

Genes

RPL11
RPL5
RPS24
RPS14
RPS16
RPS19
RPS17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19773262-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.PMID 19773262Read ↗

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.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 ↗

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

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

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.Semantic proximity Read ↗

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Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Semantic proximity Read ↗

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

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