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Page 1
A novel 506kb deletion causing εγδβ thalassemia.
Rooks H, Clark B, Best S, Rushton P, Oakley M, Thein OS, Cuthbert AC, Britland A, Ruf A, Thein SL. Rooks H, et al. Among authors: britland a. Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):121-7. doi: 10.1016/j.bcmd.2012.05.010. Epub 2012 Jun 5. Blood Cells Mol Dis. 2012. PMID: 22677107
Whole-exome-sequencing-based discovery of human FADD deficiency.
Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL. Bolze A, et al. Among authors: britland a. Am J Hum Genet. 2010 Dec 10;87(6):873-81. doi: 10.1016/j.ajhg.2010.10.028. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109225 Free PMC article.