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 | DBA5, RPL11, RPL14, RPL26, RPL35A, RPL5, RPL7, RPS15, RPS16, RPS17, RPS19, RPS24, RPS25, RPS28, RPS6, RPS7
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| The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
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| Robledo S, Idol RA, Crimmins DL, Ladenson JH, Mason PJ, Bessler M.
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| RNA 14(9):1918-29. Epub 2008 Aug 12. 2008
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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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5 | RPS12, RPS3A, RPS13, RPS11, RPS10, RPS14, RPS15, RPS16, RPS17, RPS18, RPS19, RPS20, RPS21, RPS23, RPS24, RPS25, RPS26, RPS27, RPS27A, RPS28, RPS29
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| Mass spectrometric analysis of the human 40S ribosomal subunit: native and HCV IRES-bound complexes.
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| Yu Y, Ji H, Doudna JA, Leary JA.
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| Protein Sci 14(6):1438-46. Epub 2005 May 9. 2005
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6 | RP2, RPL10, RPL10A, RPL11, RPL12, RPL13A, RPL15, RPL17, RPL18A, RPL23, RPL24, RPL26, RPL29, RPL3, RPL34, RPL36A, RPL38, RPL4, UBA52, RPL41, RPL7, RPL8, RPLP0, RPS10, RPS11, RPS12, RPS13, RPS14, RPS15, RPS15A, RPS16, RPS17, RPS18, RPS2, RPS20, RPS21, RPS23, RPS24, RPS25, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS3A, RPS4L, RPS5, RPS9
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| A map of 75 human ribosomal protein genes.
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| Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC.
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| Genome Res 8(5):509-23. 1998
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7 | RPS6, RPS11, RPS17, RPL19, RPL30, RPL35A, RPL36A
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| The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome.
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| Feo S, et al.
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| Genomics 13 : 201-207. 1992
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8 | RPS17, RPS17P2, RPS17P3
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| The transcriptionally active human ribosomal protein S17 gene.
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| Chen IT, Roufa DJ.
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| Gene 70(1):107-16. 1988
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