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Article

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.

American journal of hematology - 1 Feb 2010

Crétien Aurore, Proust Alexis, Delaunay Jean, Rincé Patricia, Leblanc Thierry, Ducrocq Rolande, Simansour Maud, Marie Isabelle, Tamary Hannah, Meerpohl Jörg, Niemeyer Charlotte, Gazda Hanna, Sieff Colin, Ball Sarah, Tchernia Gil, Mohandas Narla, Da Costa Lydie

Abstract excerpt

Mutations in the RPS19 gene have been identified in 25% of individuals affected by Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia characterized by an aregenerative anemia and a variety of malformations. More than 60 mutations in the five coding exons of RPS19 have been described to date. We previously reported a mutation (c.-1 + 26G>T) and an insertion at -631 upstream of ATG (c.-147_-146insGCCA)...

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Identifiers

PMID: 20054847
DOI: 10.1002/ajh.21601

Genes

RPS19

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