1 | DBA10, RPS26
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| Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation
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| Piantanida N, La Vecchia M, Sculco M, Talmon M, Palattella G, Kurita R, Nakamura Y, Ronchi AE, Dianzani I, Ellis SR, Fresu LG, Aspesi A.
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| Front Genet. Dec 12;13:1045236. doi: 10.3389/fgene.2022.1045236. 2022
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2 | DBA10, RPS26
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| Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.
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| Shi X, Huang X, Zhang Y, Cui X.
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| BMC Med Genet. Jul 5;20(1):120. doi: 10.1186/s12881-019-0848-1. 2019
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3 | 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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4 | DBA10, DBA9, RPS10, RPS26
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| Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
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| Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.
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| Am J Hum Genet 86(2):222-8. Epub 2010 Jan 28.PMID: 20116044 2010
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