The Frequency And Characteristics Of The Ribosomal Protein L5 (Rpl5) And Ribosomal Protein L11 (Rpl11) Gene Mutations In Patients With Diamond-Blackfan Anemia In The Czech National Registry
BLOOD(2008)
摘要
Introduction: Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia that is usually diagnosed during early infancy. Apart from defects in red cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 were found in 25% of patients, while mutations in other proteins of a small ribosomal subunit (RPS17 and RPS24) were published only in a small fraction of patients. Recently, mutations in RPL5, RPL11 and RPL35a of a large ribosomal subunit were also disclosed in several DBA patients.
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关键词
diamond-blackfan diamond-blackfan anemia,ribosomal protein l5,ribosomal protein l11,mutations
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