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