| 1 | DBA, DBA10, DBA4, DBA5, RPS17, RPS19, RPS26, RPS35A
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| Ribosomal protein gene deletions in Diamond-Blackfan anemia.
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| Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM.
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| Blood 118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.
2011
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| 2 | DBA, DBA3, DBA4, RPS19, RPS24
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| Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
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| Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N.
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| Biochim Biophys Acta 1792(10):1036-42. Epub 2009 Aug 16. 2009
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| 3 | DBA, DBA4, RPS17, RPS19
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| RPS19 mutations in patients with Diamond-Blackfan anemia.
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| Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I.
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| Hum Mutat 29(7):911-20. Review. 2008
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| 4 | RPS17, DBA4
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| Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
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| Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D.
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| Hum Mutat 28(12):1178-82. 2007
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