Article
Reduced gene expression of clustered ribosomal proteins in Diamond-Blackfan anemia patients without RPS19 gene mutations.
Journal of pediatric hematology/oncology - 1 Jun 2006
Koga Yuhki, Ohga Shouichi, Nomura Akihiko, Takada Hidetoshi, Hara Toshiro
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia occasionally presenting physical anomalies. Ribosomal protein S19 gene (RPS19) is one of the causative genes for DBA; however, the pathologic mechanism of erythroblastopenia and abnormal morphology has not been clarified. To assess the pathophysiology of DBA, the gene expression profile of 2 representative patients carrying no RPS19...
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