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Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.
Flygare J, Kiefer T, Miyake K, Utsugisawa T, Hamaguchi I, Da Costa L, Richter J, Davey EJ, Matsson H, Dahl N, Wiznerowicz M, Trono D, Karlsson S. Flygare J, et al. Among authors: dahl n. Blood. 2005 Jun 15;105(12):4627-34. doi: 10.1182/blood-2004-08-3115. Epub 2004 Dec 30. Blood. 2005. PMID: 15626736 Free article.
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Vlachos A, et al. Among authors: dahl n. Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30. Br J Haematol. 2008. PMID: 18671700 Free PMC article.
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. Draptchinskaia N, et al. Among authors: dahl n. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267
472 results