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Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.
Pellagatti A, Hellström-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jädersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J. Pellagatti A, et al. Among authors: boultwood j. Br J Haematol. 2008 Jul;142(1):57-64. doi: 10.1111/j.1365-2141.2008.07178.x. Epub 2008 May 8. Br J Haematol. 2008. PMID: 18477045 Free PMC article.
Homozygous deletion of FMS in a patient with the 5q- syndrome.
Boultwood J, Rack K, Buckle VJ, Kelly S, Madden J, Oscier DG, Wainscoat JS. Boultwood J, et al. Br J Haematol. 1990 Oct;76(2):310-1. doi: 10.1111/j.1365-2141.1990.tb07892.x. Br J Haematol. 1990. PMID: 2094336 No abstract available.
247 results