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Accession IconGSE22645

Mechanism of action of RPS19R62W mutation in Diamond-Blackfan Anemia (DBA)

Organism Icon Mus musculus
Sample Icon 6 Downloadable Samples
Technology Badge Icon Affymetrix Mouse Genome 430A 2.0 Array (mouse430a2)

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Description
RPS19 mutations are the most common cause of the human disorder Diamond Blackfan Anemia. The R62W mutation was hypothesized to act in a dominant negative fashion and mice expressing RPS19R62W have many of the characteristics of Diamond Blackfan Anemia.
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