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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I. Avondo F, et al. Among authors: campagnoli mf. BMC Genomics. 2009 Sep 18;10:442. doi: 10.1186/1471-2164-10-442. BMC Genomics. 2009. PMID: 19765279 Free PMC article.
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Campagnoli MF, et al. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
24 results