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Article

Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

The hematology journal : the official journal of the European Haematology Association - 1 Jan 2003

Proust Alexis, Da Costa Lydie, Rince Patricia, Landois Anaely, Tamary Hannah, Zaizov Rina, Tchernia Gil, Delaunay Jean

Abstract excerpt

INTRODUCTION: A total of 25% of patients presenting with Diamond-Blackfan anemia (DBA) carry mutations in the rps19 gene, which encodes protein RPS19 of the small ribosomal subunit. The other DBA cases carry mutations in other, unknown gene(s). MATERIALS AND METHODS: We searched mutations in 48 DBA families or isolated patients based on PCR of exons of the rps19 gene and automatic sequencing. We also studied...

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Source

Identifiers

PMID: 12750732
DOI: 10.1038/sj.thj.6200230

Genes

RPS19

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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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