Article
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Blood cells, molecules & diseases - 15 Apr 2012
Pospisilova Dagmar, Cmejlova Jana, Ludikova Barbora, Stary Jan, Cerna Zdena, Hak Jiri, Timr Pavel, Petrtylova Kvetoslava, Blatny Jan, Vokurka Samuel, Cmejla Radek
Abstract excerpt
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with a paucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we...
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