Article
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
BMC genomics - 18 Sept 2009
Avondo Federica, Roncaglia Paola, Crescenzio Nicoletta, Krmac Helena, Garelli Emanuela, Armiraglio Marta, Castagnoli Carlotta, Campagnoli Maria Francesca, Ramenghi Ugo, Gustincich Stefano, Santoro Claudio, Dianzani Irma
Abstract excerpt
BACKGROUND: Diamond-Blackfan anaemia (DBA) is a rare inherited red cell hypoplasia characterised by a defect in the maturation of erythroid progenitors and in some cases associated with malformations. Patients have an increased risk of solid tumors. Mutations have been found in several ribosomal protein (RP) genes, i.e RPS19, RPS24, RPS17, RPL5, RPL11, RPL35A. Studies in haematopoietic progenitors from patients...
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