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Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Fénéant-Thibault M, Garçon L, Delaunay J. Iolascon A, et al. Among authors: esposito mr. Haematologica. 2010 May;95(5):708-15. doi: 10.3324/haematol.2009.014985. Epub 2009 Dec 16. Haematologica. 2010. PMID: 20015893 Free PMC article.
Congenital dyserythropoietic anaemias: new acquisitions.
Iolascon A, Russo R, Esposito MR, Piscopo C, Asci R, De Falco L, Di Noce F. Iolascon A, et al. Among authors: esposito mr. Blood Transfus. 2011 Jul;9(3):278-80. doi: 10.2450/2010.0085-10. Epub 2010 Dec 13. Blood Transfus. 2011. PMID: 21251457 Free PMC article. Review. No abstract available.
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Schwarz K, et al. Among authors: esposito mr. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561605 Free article.
38 results