Missense mutations associated to Diamond-Blackfan Anemia affect the assembly of ribosomal protein S 19 into the ribosome

RPS19 has been identified as the first gene associated to Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. It is mutated in about 25% of the patients although doubts remain as to whether DBA clinical phenotype depends on the ribosomal function of RPS19 or on an extra-ribosomal role or on both… CONTINUE READING