Article
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
Blood cells, molecules & diseases - 1 Oct 2000
Ramenghi U, Campagnoli M F, Garelli E, Carando A, Brusco A, Bagnara G P, Strippoli P, Izzi G C, Brandalise S, Riccardi R, Dianzani I
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation and physical malformations. Most cases are sporadic, but dominant or, more rarely, recessive inheritance is observed in 10% of patients. Mutations in the gene encoding ribosomal protein (RP) S19 have recently been found in 25% of patients with either the dominant or the sporadic form. DBA is the first...
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