Article
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Human mutation - 1 Mar 2009
Cmejla Radek, Cmejlova Jana, Handrkova Helena, Petrak Jiri, Petrtylova Kvetoslava, Mihal Vladimir, Stary Jan, Cerna Zdena, Jabali Yahia, Pospisilova Dagmar
Abstract excerpt
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 found in 25% of patients, while mutations in other proteins of the small ribosomal subunit--RPS17 and RPS24--have been...
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