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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: dianzani i. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnett HH, Shafer FE, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N. Gustavsson P, et al. Among authors: dianzani i. Am J Hum Genet. 1998 Nov;63(5):1388-95. doi: 10.1086/302100. Am J Hum Genet. 1998. PMID: 9792865 Free PMC article.
Diamond-Blackfan anaemia in the Italian population.
Ramenghi U, Garelli E, Valtolina S, Campagnoli MF, Timeus F, Crescenzio N, Mair M, Varotto S, D'Avanzo M, Nobili B, Massolo F, Mori PG, Locatelli F, Gustavsson P, Dahl N, Dianzani I. Ramenghi U, et al. Among authors: dianzani i. Br J Haematol. 1999 Mar;104(4):841-8. doi: 10.1046/j.1365-2141.1999.01267.x. Br J Haematol. 1999. PMID: 10192448 Free article.
Clinical utility gene card for: Diamond Blackfan anemia.
Vlachos A, Dahl N, Dianzani I, Lipton JM. Vlachos A, et al. Among authors: dianzani i. Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.247. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248735 Free PMC article. No abstract available.
Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.
Vlachos A, Dahl N, Dianzani I, Lipton JM. Vlachos A, et al. Among authors: dianzani i. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.34. Epub 2013 Mar 6. Eur J Hum Genet. 2013. PMID: 23463023 Free PMC article. No abstract available.
153 results