Diamond-Blackfan anemia, a disease of the ribosome
Da Costa L et al. - Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia with, in 40% of DBA cases, growth retardation and various malformations, mostly in the cephalic area and in the extremities. In 1997, a 7 year-old DBA girl, from Sweden, carried a balanced translocation 46, XX, t(X\;19). She was at the origin of DBA genetic story and led to the discovery of the first gene involved in DBA, the ribosomal protein S19 gene (RPS19). [more...]
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