Identification of mutations in the ribos
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Radek Cmejla; Jana Cmejlova; Helena Handrkova; Jiri Petrak; Kvetoslava Petrtylov
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Article
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2009
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John Wiley and Sons
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English
β 313 KB
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are fo